PRIMA1 — 156 ClinVar variants
All ClinVar germline PRIMA1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 65 flagged for review →
2 Pathogenic · 1 Conflicting · 4 Benign · 1 Benign/Likely benign · 74 Likely benign · 74 Uncertain significance
Full PRIMA1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 65
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
PRIMA1 p.Arg49Gln
Conflicting
Single submitter
familial sleep-related hypermotor epilepsy
Predictors lean, ClinVar uncertain 56
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
PRIMA1 p.Arg55Trp
Uncertain significance
Multiple submitters
familial sleep-related hypermotor epilepsy
-
PRIMA1 p.Asn79Ser
Uncertain significance
Multiple submitters
familial sleep-related hypermotor epilepsy
-
PRIMA1 p.Gly145Arg
Uncertain significance
Multiple submitters
familial sleep-related hypermotor epilepsy
-
PRIMA1 p.Leu6Val
Uncertain significance
Multiple submitters
familial sleep-related hypermotor epilepsy
-
PRIMA1 p.Pro84Ala
Uncertain significance
Multiple submitters
familial sleep-related hypermotor epilepsy
-
PRIMA1 p.Ser103Phe
Uncertain significance
Multiple submitters
familial sleep-related hypermotor epilepsy
-
PRIMA1 p.Ser142Arg
Uncertain significance
Multiple submitters
familial sleep-related hypermotor epilepsy
-
PRIMA1 p.Val111Ala
Uncertain significance
Multiple submitters
familial sleep-related hypermotor epilepsy
-
PRIMA1 p.Val148Met
Uncertain significance
Multiple submitters
familial sleep-related hypermotor epilepsy
-
PRIMA1 p.Val51Ile
Uncertain significance
Multiple submitters
familial sleep-related hypermotor epilepsy
-
PRIMA1 p.Val99Ile
Uncertain significance
Multiple submitters
familial sleep-related hypermotor epilepsy
-
PRIMA1 p.Ala133Val
Uncertain significance
Single submitter
familial sleep-related hypermotor epilepsy
-
PRIMA1 p.Ala151Pro
Uncertain significance
Single submitter
familial sleep-related hypermotor epilepsy
-
PRIMA1 p.Ala151Thr
Uncertain significance
Single submitter
familial sleep-related hypermotor epilepsy
-
PRIMA1 p.Ala75Thr
Uncertain significance
Single submitter
familial sleep-related hypermotor epilepsy
-
PRIMA1 p.Ala98Thr
Uncertain significance
Single submitter
familial sleep-related hypermotor epilepsy
-
PRIMA1 p.Arg10Cys
Uncertain significance
Single submitter
familial sleep-related hypermotor epilepsy
-
PRIMA1 p.Arg10Leu
Uncertain significance
Single submitter
familial sleep-related hypermotor epilepsy
-
PRIMA1 p.Arg4Gln
Uncertain significance
Single submitter
familial sleep-related hypermotor epilepsy
-
PRIMA1 p.Arg55Gln
Uncertain significance
Single submitter
familial sleep-related hypermotor epilepsy
- PRIMA1 p.Arg9Cys Uncertain significance Single submitter
-
PRIMA1 p.Arg9Leu
Uncertain significance
Single submitter
familial sleep-related hypermotor epilepsy
-
PRIMA1 p.Asn128Ser
Uncertain significance
Single submitter
familial sleep-related hypermotor epilepsy
-
PRIMA1 p.Asp147Glu
Uncertain significance
Single submitter
familial sleep-related hypermotor epilepsy
- PRIMA1 p.Asp147Gly Uncertain significance Single submitter
-
PRIMA1 p.Gln31Glu
Uncertain significance
Single submitter
familial sleep-related hypermotor epilepsy
-
PRIMA1 p.Glu127Lys
Uncertain significance
Single submitter
familial sleep-related hypermotor epilepsy
- PRIMA1 p.Gly35Asp Uncertain significance Single submitter
-
PRIMA1 p.His20Leu
Uncertain significance
Single submitter
familial sleep-related hypermotor epilepsy
-
PRIMA1 p.His50Leu
Uncertain significance
Single submitter
familial sleep-related hypermotor epilepsy
- PRIMA1 p.His50Tyr Uncertain significance Single submitter
-
PRIMA1 p.Ile118Val
Uncertain significance
Single submitter
familial sleep-related hypermotor epilepsy
- PRIMA1 p.Ile97Thr Uncertain significance Single submitter
- PRIMA1 p.Leu110Phe Uncertain significance Single submitter
- PRIMA1 p.Leu2Pro Uncertain significance Single submitter
-
PRIMA1 p.Leu3Pro
Uncertain significance
Single submitter
familial sleep-related hypermotor epilepsy
-
PRIMA1 p.Leu8Val
Uncertain significance
Single submitter
familial sleep-related hypermotor epilepsy
-
PRIMA1 p.Lys144Arg
Uncertain significance
Single submitter
familial sleep-related hypermotor epilepsy
-
PRIMA1 p.Lys39Thr
Uncertain significance
Single submitter
familial sleep-related hypermotor epilepsy
-
PRIMA1 p.Pro63Leu
Uncertain significance
Single submitter
familial sleep-related hypermotor epilepsy
-
PRIMA1 p.Pro76Ser
Uncertain significance
Single submitter
familial sleep-related hypermotor epilepsy
-
PRIMA1 p.Ser140Leu
Uncertain significance
Single submitter
familial sleep-related hypermotor epilepsy
- PRIMA1 p.Ser15Phe Uncertain significance Single submitter
-
PRIMA1 p.Ser15Tyr
Uncertain significance
Single submitter
familial sleep-related hypermotor epilepsy
-
PRIMA1 p.Ser16Leu
Uncertain significance
Single submitter
familial sleep-related hypermotor epilepsy
-
PRIMA1 p.Ser80Cys
Uncertain significance
Single submitter
familial sleep-related hypermotor epilepsy
-
PRIMA1 p.Ser91Leu
Uncertain significance
Single submitter
familial sleep-related hypermotor epilepsy
-
PRIMA1 p.Ser91Trp
Uncertain significance
Single submitter
familial sleep-related hypermotor epilepsy
-
PRIMA1 p.Thr33Met
Uncertain significance
Single submitter
familial sleep-related hypermotor epilepsy
- PRIMA1 p.Trp14Leu Uncertain significance Single submitter
-
PRIMA1 p.Val105Met
Uncertain significance
Single submitter
familial sleep-related hypermotor epilepsy
-
PRIMA1 p.Val132Ile
Uncertain significance
Single submitter
familial sleep-related hypermotor epilepsy
- PRIMA1 p.Val146Leu Uncertain significance Single submitter
-
PRIMA1 p.Val152Ala
Uncertain significance
Single submitter
familial sleep-related hypermotor epilepsy
-
PRIMA1 p.Val30Met
Uncertain significance
Single submitter
familial sleep-related hypermotor epilepsy
- PRIMA1 p.Val51Asp Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
-
PRIMA1 p.Ile118Thr
Uncertain significance
Multiple submitters
familial sleep-related hypermotor epilepsy
-
PRIMA1 p.Pro59Leu
Uncertain significance
Multiple submitters
familial sleep-related hypermotor epilepsy
-
PRIMA1 p.Cys114Tyr
Uncertain significance
Single submitter
familial sleep-related hypermotor epilepsy
-
PRIMA1 p.Gly28Arg
Uncertain significance
Single submitter
familial sleep-related hypermotor epilepsy
-
PRIMA1 p.Phe29Leu
Uncertain significance
Single submitter
familial sleep-related hypermotor epilepsy
-
PRIMA1 p.Pro122Leu
Uncertain significance
Single submitter
familial sleep-related hypermotor epilepsy
-
PRIMA1 p.Pro122Ser
Uncertain significance
Single submitter
familial sleep-related hypermotor epilepsy
-
PRIMA1 p.Pro57His
Uncertain significance
Single submitter
familial sleep-related hypermotor epilepsy
All PRIMA1 variants
Pathogenic 2
- p.Trp27Ter Single submitter familial sleep-related hypermotor epilepsy
- p.Trp90Ter Single submitter familial sleep-related hypermotor epilepsy
Conflicting classifications of pathogenicity 1
- p.Arg49Gln Single submitter familial sleep-related hypermotor epilepsy ⚠
Benign 4
- p.His34= Multiple submitters familial sleep-related hypermotor epilepsy
- p.Ser140= Multiple submitters familial sleep-related hypermotor epilepsy
- p.Ser74= Multiple submitters familial sleep-related hypermotor epilepsy
- c.94-18G>A Single submitter familial sleep-related hypermotor epilepsy
Benign/Likely benign 1
- p.Glu134= Multiple submitters familial sleep-related hypermotor epilepsy
Likely benign 74
- c.360-11C>T Multiple submitters familial sleep-related hypermotor epilepsy
- c.360-12C>T Multiple submitters familial sleep-related hypermotor epilepsy
- c.360-15T>G Multiple submitters familial sleep-related hypermotor epilepsy
- c.229+11G>A Single submitter familial sleep-related hypermotor epilepsy
- c.229+14C>T Single submitter familial sleep-related hypermotor epilepsy
- c.230-14_230-12del Single submitter familial sleep-related hypermotor epilepsy
- c.230-20G>C Single submitter familial sleep-related hypermotor epilepsy
- c.359+12C>G Single submitter familial sleep-related hypermotor epilepsy
- c.359+12C>T Single submitter familial sleep-related hypermotor epilepsy
- c.359+15A>C Single submitter familial sleep-related hypermotor epilepsy
- c.359+6_359+7insA Single submitter familial sleep-related hypermotor epilepsy
- c.360-10C>T Single submitter familial sleep-related hypermotor epilepsy
- c.360-12C>G Single submitter familial sleep-related hypermotor epilepsy
- c.360-14C>A Single submitter familial sleep-related hypermotor epilepsy
- c.360-17C>T Single submitter familial sleep-related hypermotor epilepsy
- c.360-4C>G Single submitter familial sleep-related hypermotor epilepsy
- c.360-8A>G Single submitter familial sleep-related hypermotor epilepsy
- c.360-8A>T Single submitter familial sleep-related hypermotor epilepsy
- c.360-9C>A Single submitter familial sleep-related hypermotor epilepsy
- c.360-9C>T Single submitter familial sleep-related hypermotor epilepsy
- c.93+12C>A Single submitter familial sleep-related hypermotor epilepsy
- c.93+12C>G Single submitter familial sleep-related hypermotor epilepsy
- c.93+18C>T Single submitter familial sleep-related hypermotor epilepsy
- c.93+20C>A Single submitter familial sleep-related hypermotor epilepsy
- c.93+7C>A Single submitter familial sleep-related hypermotor epilepsy
- c.93+7C>T Single submitter familial sleep-related hypermotor epilepsy
- c.93+8G>C Single submitter familial sleep-related hypermotor epilepsy
- c.93+8G>T Single submitter familial sleep-related hypermotor epilepsy
- c.94-10A>G Single submitter familial sleep-related hypermotor epilepsy
- c.94-12C>A Single submitter familial sleep-related hypermotor epilepsy
- c.94-19C>T Single submitter familial sleep-related hypermotor epilepsy
- c.94-20A>G Single submitter familial sleep-related hypermotor epilepsy
- c.94-6G>A Single submitter familial sleep-related hypermotor epilepsy
- c.94-8G>A Single submitter familial sleep-related hypermotor epilepsy
- c.*6C>T Single submitter
- p.Ala102= Single submitter familial sleep-related hypermotor epilepsy
- p.Ala117= Single submitter familial sleep-related hypermotor epilepsy
- p.Ala22= Single submitter familial sleep-related hypermotor epilepsy
- p.Ala75= Single submitter familial sleep-related hypermotor epilepsy
- p.Ala98= Single submitter familial sleep-related hypermotor epilepsy
- p.Asn150= Single submitter familial sleep-related hypermotor epilepsy
- p.Asn79= Single submitter familial sleep-related hypermotor epilepsy
- p.Asp126= Single submitter familial sleep-related hypermotor epilepsy
- p.Asp147= Single submitter familial sleep-related hypermotor epilepsy
- p.Cys100= Single submitter familial sleep-related hypermotor epilepsy
- p.Gly129= Single submitter familial sleep-related hypermotor epilepsy
- p.His50= Single submitter familial sleep-related hypermotor epilepsy
- p.Ile95= Single submitter familial sleep-related hypermotor epilepsy
- p.Leu17= Single submitter familial sleep-related hypermotor epilepsy
- p.Leu18= Single submitter familial sleep-related hypermotor epilepsy
- p.Leu6= Single submitter familial sleep-related hypermotor epilepsy
- p.Leu8= Single submitter familial sleep-related hypermotor epilepsy
- p.Leu93= Single submitter familial sleep-related hypermotor epilepsy
- p.Pro122= Single submitter familial sleep-related hypermotor epilepsy
- p.Pro136= Single submitter familial sleep-related hypermotor epilepsy
- p.Pro37= Single submitter familial sleep-related hypermotor epilepsy
- p.Pro57= Single submitter familial sleep-related hypermotor epilepsy
- p.Pro59= Single submitter familial sleep-related hypermotor epilepsy
- p.Pro61= Single submitter familial sleep-related hypermotor epilepsy
- p.Pro62= Single submitter familial sleep-related hypermotor epilepsy
- p.Pro63= Single submitter familial sleep-related hypermotor epilepsy
- p.Pro64= Single submitter familial sleep-related hypermotor epilepsy
- p.Pro67= Single submitter familial sleep-related hypermotor epilepsy
- p.Pro78= Single submitter familial sleep-related hypermotor epilepsy
- p.Pro84= Single submitter familial sleep-related hypermotor epilepsy
- p.Ser131= Single submitter familial sleep-related hypermotor epilepsy
- p.Ser16= Single submitter familial sleep-related hypermotor epilepsy
- p.Ser40= Single submitter familial sleep-related hypermotor epilepsy
- p.Ser91= Single submitter familial sleep-related hypermotor epilepsy
- p.Thr130= Single submitter familial sleep-related hypermotor epilepsy
- p.Thr33= Single submitter familial sleep-related hypermotor epilepsy
- p.Val105= Single submitter familial sleep-related hypermotor epilepsy
- p.Val148= Single submitter familial sleep-related hypermotor epilepsy
- p.Val30= Single submitter familial sleep-related hypermotor epilepsy
Uncertain significance 74
- p.Arg55Trp Multiple submitters familial sleep-related hypermotor epilepsy ⚠
- p.Asn79Ser Multiple submitters familial sleep-related hypermotor epilepsy ⚠
- p.Gly145Arg Multiple submitters familial sleep-related hypermotor epilepsy ⚠
- p.Ile118Thr Multiple submitters familial sleep-related hypermotor epilepsy ⚠
- p.Leu6Val Multiple submitters familial sleep-related hypermotor epilepsy ⚠
- p.Pro59Leu Multiple submitters familial sleep-related hypermotor epilepsy ⚠
- p.Pro84Ala Multiple submitters familial sleep-related hypermotor epilepsy ⚠
- p.Ser103Phe Multiple submitters familial sleep-related hypermotor epilepsy ⚠
- p.Ser142Arg Multiple submitters familial sleep-related hypermotor epilepsy ⚠
- p.Val111Ala Multiple submitters familial sleep-related hypermotor epilepsy ⚠
- p.Val148Met Multiple submitters familial sleep-related hypermotor epilepsy ⚠
- p.Val51Ile Multiple submitters familial sleep-related hypermotor epilepsy ⚠
- p.Val99Ile Multiple submitters familial sleep-related hypermotor epilepsy ⚠
- c.359+6T>A Single submitter familial sleep-related hypermotor epilepsy
- p.Ala133Val Single submitter familial sleep-related hypermotor epilepsy ⚠
- p.Ala151Pro Single submitter familial sleep-related hypermotor epilepsy ⚠
- p.Ala151Thr Single submitter familial sleep-related hypermotor epilepsy ⚠
- p.Ala75Thr Single submitter familial sleep-related hypermotor epilepsy ⚠
- p.Ala98Thr Single submitter familial sleep-related hypermotor epilepsy ⚠
- p.Arg10Cys Single submitter familial sleep-related hypermotor epilepsy ⚠
- p.Arg10Leu Single submitter familial sleep-related hypermotor epilepsy ⚠
- p.Arg4Gln Single submitter familial sleep-related hypermotor epilepsy ⚠
- p.Arg55Gln Single submitter familial sleep-related hypermotor epilepsy ⚠
- p.Arg9Cys Single submitter ⚠
- p.Arg9Leu Single submitter familial sleep-related hypermotor epilepsy ⚠
- p.Asn128Ser Single submitter familial sleep-related hypermotor epilepsy ⚠
- p.Asp147Glu Single submitter familial sleep-related hypermotor epilepsy ⚠
- p.Asp147Gly Single submitter ⚠
- p.Asp5Asn Single submitter familial sleep-related hypermotor epilepsy
- p.Cys114Tyr Single submitter familial sleep-related hypermotor epilepsy ⚠
- p.Cys12Gly Single submitter familial sleep-related hypermotor epilepsy
- p.Gln31Glu Single submitter familial sleep-related hypermotor epilepsy ⚠
- p.Glu127Lys Single submitter familial sleep-related hypermotor epilepsy ⚠
- p.Gly28Arg Single submitter familial sleep-related hypermotor epilepsy ⚠
- p.Gly28Ser Single submitter
- p.Gly35Asp Single submitter ⚠
- p.Gly35Ser Single submitter familial sleep-related hypermotor epilepsy
- p.His20Leu Single submitter familial sleep-related hypermotor epilepsy ⚠
- p.His50Leu Single submitter familial sleep-related hypermotor epilepsy ⚠
- p.His50Tyr Single submitter ⚠
- p.Ile118Val Single submitter familial sleep-related hypermotor epilepsy ⚠
- p.Ile97Thr Single submitter ⚠
- p.Leu110Phe Single submitter ⚠
- p.Leu26Pro Single submitter
- p.Leu2Pro Single submitter ⚠
- p.Leu3Pro Single submitter familial sleep-related hypermotor epilepsy ⚠
- p.Leu8Val Single submitter familial sleep-related hypermotor epilepsy ⚠
- p.Lys144Arg Single submitter familial sleep-related hypermotor epilepsy ⚠
- p.Lys39Thr Single submitter familial sleep-related hypermotor epilepsy ⚠
- p.Phe106Ile Single submitter familial sleep-related hypermotor epilepsy
- p.Phe29Leu Single submitter familial sleep-related hypermotor epilepsy ⚠
- p.Pro122Leu Single submitter familial sleep-related hypermotor epilepsy ⚠
- p.Pro122Ser Single submitter familial sleep-related hypermotor epilepsy ⚠
- p.Pro57His Single submitter familial sleep-related hypermotor epilepsy ⚠
- p.Pro63Leu Single submitter familial sleep-related hypermotor epilepsy ⚠
- p.Pro68_Pro70dup Single submitter familial sleep-related hypermotor epilepsy
- p.Pro76= Single submitter familial sleep-related hypermotor epilepsy
- p.Pro76Ser Single submitter familial sleep-related hypermotor epilepsy ⚠
- p.Ser140Leu Single submitter familial sleep-related hypermotor epilepsy ⚠
- p.Ser15Phe Single submitter ⚠
- p.Ser15Tyr Single submitter familial sleep-related hypermotor epilepsy ⚠
- p.Ser16Leu Single submitter familial sleep-related hypermotor epilepsy ⚠
- p.Ser80Cys Single submitter familial sleep-related hypermotor epilepsy ⚠
- p.Ser91Leu Single submitter familial sleep-related hypermotor epilepsy ⚠
- p.Ser91Trp Single submitter familial sleep-related hypermotor epilepsy ⚠
- p.Thr33Ile Single submitter familial sleep-related hypermotor epilepsy
- p.Thr33Met Single submitter familial sleep-related hypermotor epilepsy ⚠
- p.Trp14Leu Single submitter ⚠
- p.Val105Met Single submitter familial sleep-related hypermotor epilepsy ⚠
- p.Val132Ile Single submitter familial sleep-related hypermotor epilepsy ⚠
- p.Val146Leu Single submitter ⚠
- p.Val152Ala Single submitter familial sleep-related hypermotor epilepsy ⚠
- p.Val30Met Single submitter familial sleep-related hypermotor epilepsy ⚠
- p.Val51Asp Single submitter ⚠