RPSA — 189 ClinVar variants
All ClinVar germline RPSA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 71 flagged for review →
6 Pathogenic · 3 Likely pathogenic · 2 Conflicting · 3 Benign · 6 Benign/Likely benign · 84 Likely benign · 85 Uncertain significance
Full RPSA gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 71
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 lean, ClinVar uncertain 44
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- RPSA p.Arg191Cys Uncertain significance Multiple submitters
- RPSA p.Ala235Thr Uncertain significance Single submitter
- RPSA p.Ala269Thr Uncertain significance Single submitter
- RPSA p.Ala278Thr Uncertain significance Single submitter
- RPSA p.Ala282Gly Uncertain significance Single submitter
- RPSA p.Ala290Thr Uncertain significance Single submitter
- RPSA p.Ala62Gly Uncertain significance Single submitter
- RPSA p.Ala72Val Uncertain significance Single submitter
- RPSA p.Ala91Gly Uncertain significance Single submitter
- RPSA p.Arg120Gly Uncertain significance Single submitter
- RPSA p.Arg155His Uncertain significance Single submitter
- RPSA p.Arg186His Uncertain significance Single submitter
- RPSA p.Arg186Leu Uncertain significance Single submitter
- RPSA p.Arg63His Uncertain significance Single submitter
-
RPSA p.Asn164Ile
Uncertain significance
Single submitter
familial isolated congenital asplenia
- RPSA p.Asn165Ser Uncertain significance Single submitter
- RPSA p.Gln132His Uncertain significance Single submitter
- RPSA p.Glu181Lys Uncertain significance Single submitter
- RPSA p.Glu274Gln Uncertain significance Single submitter
- RPSA p.Glu274Gly Uncertain significance Single submitter
- RPSA p.Gly289Arg Uncertain significance Single submitter
- RPSA p.Ile159Val Uncertain significance Single submitter
- RPSA p.Ile77Thr Uncertain significance Single submitter
- RPSA p.Leu122Pro Uncertain significance Single submitter
- RPSA p.Leu183Val Uncertain significance Single submitter
- RPSA p.Lys52Arg Uncertain significance Single submitter
- RPSA p.Met34Val Uncertain significance Single submitter
- RPSA p.Pro127Arg Uncertain significance Single submitter
- RPSA p.Pro143Ser Uncertain significance Single submitter
- RPSA p.Pro207Ala Uncertain significance Single submitter
- RPSA p.Pro255Leu Uncertain significance Single submitter
- RPSA p.Ser138Phe Uncertain significance Single submitter
-
RPSA p.Ser170Ala
Uncertain significance
Single submitter
familial isolated congenital asplenia
- RPSA p.Ser190Cys Uncertain significance Single submitter
- RPSA p.Ser2Phe Uncertain significance Single submitter
- RPSA p.Thr281Ala Uncertain significance Single submitter
- RPSA p.Thr285Ala Uncertain significance Single submitter
- RPSA p.Thr54Ser Uncertain significance Single submitter
- RPSA p.Thr97Ala Uncertain significance Single submitter
- RPSA p.Trp231Cys Uncertain significance Single submitter
- RPSA p.Tyr156Cys Uncertain significance Single submitter
- RPSA p.Tyr156Ser Uncertain significance Single submitter
- RPSA p.Val66Phe Uncertain significance Single submitter
-
RPSA p.Ser78Tyr
Uncertain significance
No assertion criteria
RPSA-related disorder
Predictors split 27
The independent predictors disagree with each other — read with care.
- RPSA p.Ile145Val Uncertain significance Multiple submitters
- RPSA p.Ala160Gly Uncertain significance Single submitter
- RPSA p.Ala160Val Uncertain significance Single submitter
- RPSA p.Ala4Thr Uncertain significance Single submitter
- RPSA p.Ala64Thr Uncertain significance Single submitter
- RPSA p.Arg117Gln Uncertain significance Single submitter
- RPSA p.Arg155Cys Uncertain significance Single submitter
- RPSA p.Arg184Cys Uncertain significance Single submitter
- RPSA p.Gln33Glu Uncertain significance Single submitter
- RPSA p.Gln36His Uncertain significance Single submitter
- RPSA p.Glu225Gly Uncertain significance Single submitter
- RPSA p.Glu35Lys Uncertain significance Single submitter
- RPSA p.Ile65Val Uncertain significance Single submitter
- RPSA p.Ile99Val Uncertain significance Single submitter
- RPSA p.Lys11Arg Uncertain significance Single submitter
- RPSA p.Lys224Glu Uncertain significance Single submitter
- RPSA p.Met174Ile Uncertain significance Single submitter
- RPSA p.Met177Ile Uncertain significance Single submitter
- RPSA p.Pro236Ser Uncertain significance Single submitter
- RPSA p.Pro258Ser Uncertain significance Single submitter
- RPSA p.Thr135Met Uncertain significance Single submitter
- RPSA p.Thr264Asn Uncertain significance Single submitter
- RPSA p.Thr273Met Uncertain significance Single submitter
- RPSA p.Thr28Ile Uncertain significance Single submitter
- RPSA p.Thr82Ser Uncertain significance Single submitter
-
RPSA p.Val257Gly
Uncertain significance
Single submitter
RPSA-related disorder
-
RPSA p.Leu58Phe
Pathogenic
No assertion criteria
familial isolated congenital asplenia
All RPSA variants
Pathogenic 6
- p.Arg180Trp Single submitter familial isolated congenital asplenia
- p.Arg180Gly No assertion criteria familial isolated congenital asplenia
- p.Gln9Ter No assertion criteria familial isolated congenital asplenia
- p.Leu58Phe No assertion criteria familial isolated congenital asplenia ⚠
- p.Pro199fs No assertion criteria familial isolated congenital asplenia
- p.Thr54Asn No assertion criteria familial isolated congenital asplenia
Likely pathogenic 3
- p.Arg186Cys Single submitter familial isolated congenital asplenia
- p.Asn165Tyr Single submitter familial isolated congenital asplenia
- p.Lys220fs Single submitter familial isolated congenital asplenia
Conflicting classifications of pathogenicity 2
- c.133+8A>G Single submitter
- c.498+8T>A Single submitter familial isolated congenital asplenia
Benign 3
- c.134-32C>T Multiple submitters familial isolated congenital asplenia
- c.628-10del Single submitter
- c.628-11_628-10del Single submitter
Benign/Likely benign 6
- c.252+17T>C Multiple submitters
- c.628-10dup Multiple submitters
- c.-8T>C Multiple submitters familial isolated congenital asplenia
- p.Leu173= Multiple submitters familial isolated congenital asplenia
- p.Pro105= Multiple submitters
- p.Val76= Multiple submitters
Likely benign 84
- c.134-14C>T Multiple submitters
- c.627+10T>C Multiple submitters
- c.628-17T>C Multiple submitters
- p.Ala146= Multiple submitters
- p.Leu201= Multiple submitters
- p.Phe203= Multiple submitters
- p.Pro234= Multiple submitters
- p.Pro71= Multiple submitters
- p.Ser268= Multiple submitters
- p.Val252= Multiple submitters
- c.134-12G>C Single submitter
- c.134-14C>G Single submitter
- c.134-18C>T Single submitter
- c.134-6dup Single submitter
- c.134-7C>T Single submitter
- c.134-9C>T Single submitter
- c.252+10A>G Single submitter
- c.252+11_252+12del Single submitter
- c.252+12_252+13del Single submitter
- c.252+16G>A Single submitter
- c.252+16G>T Single submitter
- c.253-15_253-14del Single submitter
- c.253-15T>G Single submitter
- c.253-16T>A Single submitter
- c.498+12A>G Single submitter
- c.498+14G>T Single submitter
- c.498+16T>C Single submitter
- c.498+21_498+34del Single submitter
- c.498+6G>A Single submitter
- c.498+7A>G Single submitter
- c.499-15_499-13del Single submitter
- c.499-16C>T Single submitter
- c.499-6T>C Single submitter
- c.499-9T>C Single submitter
- c.627+11C>G Single submitter
- c.627+17G>C Single submitter
- c.627+17G>T Single submitter
- c.628-14T>C Single submitter
- c.628-8dup Single submitter
- c.628-9dup Single submitter
- c.793+10A>G Single submitter
- c.793+13A>G Single submitter
- c.793+7A>G Single submitter
- c.794-10C>G Single submitter
- c.-34+15G>A Single submitter
- c.*11C>T Single submitter
- p.Ala100= Single submitter
- p.Ala20= Single submitter
- p.Ala21= Single submitter
- p.Ala278= Single submitter
- p.Ala290= Single submitter
- p.Ala61= Single submitter
- p.Ala91= Single submitter
- p.Arg191= Single submitter
- p.Arg63= Single submitter
- p.Asn110= Single submitter
- p.Asp130= Single submitter
- p.Asp266= Single submitter
- p.Glu118= Single submitter
- p.Gly27= Single submitter
- p.Gly3= Single submitter
- p.Leu134= Single submitter
- p.Leu147= Single submitter
- p.Leu154= Single submitter
- p.Leu59= Single submitter
- p.Leu8= Single submitter
- p.Lys11= Single submitter
- p.Phe18= Single submitter
- p.Pro162= Single submitter
- p.Pro194= Single submitter
- p.Pro255= Single submitter
- p.Pro258= Single submitter
- p.Pro271= Single submitter
- p.Ser170= Single submitter
- p.Ser2= Single submitter
- p.Ser256= Single submitter
- p.Ser43= Single submitter
- p.Ser75= Single submitter
- p.Ser78= Single submitter
- p.Thr150= Single submitter
- p.Thr241= Single submitter
- p.Thr273= Single submitter
- p.Val257= Single submitter
- p.Val87= Single submitter
Uncertain significance 85
- p.Arg191Cys Multiple submitters ⚠
- p.Ile145Val Multiple submitters ⚠
- p.Trp176del Multiple submitters
- c.498+3A>C Single submitter
- c.498+6G>T Single submitter
- c.499-3C>T Single submitter
- c.627+3A>G Single submitter
- c.627+4A>G Single submitter
- c.628-3C>G Single submitter
- c.628-3C>T Single submitter
- c.793+5G>A Single submitter
- c.794-7T>G Single submitter
- p.Ala129_Asp130insAla Single submitter
- p.Ala160Gly Single submitter ⚠
- p.Ala160Val Single submitter ⚠
- p.Ala235Thr Single submitter ⚠
- p.Ala269Thr Single submitter ⚠
- p.Ala278Thr Single submitter ⚠
- p.Ala282Gly Single submitter ⚠
- p.Ala290Thr Single submitter ⚠
- p.Ala4Thr Single submitter ⚠
- p.Ala62Gly Single submitter ⚠
- p.Ala64Thr Single submitter ⚠
- p.Ala72Val Single submitter ⚠
- p.Ala91Gly Single submitter ⚠
- p.Arg117Gln Single submitter ⚠
- p.Arg120Gly Single submitter ⚠
- p.Arg155Cys Single submitter ⚠
- p.Arg155His Single submitter ⚠
- p.Arg184Cys Single submitter ⚠
- p.Arg186His Single submitter ⚠
- p.Arg186Leu Single submitter ⚠
- p.Arg63His Single submitter ⚠
- p.Asn164Ile Single submitter familial isolated congenital asplenia ⚠
- p.Asn165Ser Single submitter ⚠
- p.Gln132His Single submitter ⚠
- p.Gln33Glu Single submitter ⚠
- p.Gln36His Single submitter ⚠
- p.Glu181Lys Single submitter ⚠
- p.Glu225Gly Single submitter ⚠
- p.Glu274Gln Single submitter ⚠
- p.Glu274Gly Single submitter ⚠
- p.Glu35Lys Single submitter ⚠
- p.Gly289Arg Single submitter ⚠
- p.Ile159Val Single submitter ⚠
- p.Ile48= Single submitter
- p.Ile65Val Single submitter ⚠
- p.Ile77Thr Single submitter ⚠
- p.Ile99Val Single submitter ⚠
- p.Leu122Pro Single submitter ⚠
- p.Leu183Val Single submitter ⚠
- p.Leu58Val Single submitter
- p.Lys11Arg Single submitter ⚠
- p.Lys224Glu Single submitter ⚠
- p.Lys52Arg Single submitter ⚠
- p.Met174Ile Single submitter ⚠
- p.Met177Ile Single submitter ⚠
- p.Met34Val Single submitter ⚠
- p.Pro127Arg Single submitter ⚠
- p.Pro143Ser Single submitter ⚠
- p.Pro207Ala Single submitter ⚠
- p.Pro236Ser Single submitter ⚠
- p.Pro255Leu Single submitter ⚠
- p.Pro258Ser Single submitter ⚠
- p.Ser138Phe Single submitter ⚠
- p.Ser170Ala Single submitter familial isolated congenital asplenia ⚠
- p.Ser190Cys Single submitter ⚠
- p.Ser2Phe Single submitter ⚠
- p.Thr135Met Single submitter ⚠
- p.Thr264= Single submitter
- p.Thr264Asn Single submitter ⚠
- p.Thr273Met Single submitter ⚠
- p.Thr281Ala Single submitter ⚠
- p.Thr285Ala Single submitter ⚠
- p.Thr28Ile Single submitter ⚠
- p.Thr54Ser Single submitter ⚠
- p.Thr82Ser Single submitter ⚠
- p.Thr97Ala Single submitter ⚠
- p.Trp231Cys Single submitter ⚠
- p.Tyr156Cys Single submitter ⚠
- p.Tyr156Ser Single submitter ⚠
- p.Val257Gly Single submitter RPSA-related disorder ⚠
- p.Val288= Single submitter
- p.Val66Phe Single submitter ⚠
- p.Ser78Tyr No assertion criteria RPSA-related disorder ⚠