SRRT — 128 ClinVar variants
All ClinVar germline SRRT variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 112 flagged for review →
8 Benign · 4 Likely benign · 116 Uncertain significance
Full SRRT gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 112
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 82
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SRRT p.Ala190Val Uncertain significance Single submitter
- SRRT p.Ala245Gly Uncertain significance Single submitter
- SRRT p.Ala291Ser Uncertain significance Single submitter
- SRRT p.Ala379Ser Uncertain significance Single submitter
- SRRT p.Ala583Val Uncertain significance Single submitter
- SRRT p.Ala748Thr Uncertain significance Single submitter
- SRRT p.Ala748Val Uncertain significance Single submitter
- SRRT p.Ala812Val Uncertain significance Single submitter
- SRRT p.Ala827Gly Uncertain significance Single submitter
- SRRT p.Ala827Ser Uncertain significance Single submitter
- SRRT p.Ala838Pro Uncertain significance Single submitter
- SRRT p.Arg210Gln Uncertain significance Single submitter
- SRRT p.Arg214Gln Uncertain significance Single submitter
- SRRT p.Arg25His Uncertain significance Single submitter
- SRRT p.Arg266His Uncertain significance Single submitter
- SRRT p.Arg300Cys Uncertain significance Single submitter
- SRRT p.Arg300His Uncertain significance Single submitter
- SRRT p.Arg354Gln Uncertain significance Single submitter
- SRRT p.Arg463Cys Uncertain significance Single submitter
- SRRT p.Arg677Gln Uncertain significance Single submitter
- SRRT p.Arg729Cys Uncertain significance Single submitter
- SRRT p.Arg79Pro Uncertain significance Single submitter
- SRRT p.Arg802Trp Uncertain significance Single submitter
- SRRT p.Arg865Trp Uncertain significance Single submitter
- SRRT p.Asn508Ile Uncertain significance Single submitter
- SRRT p.Asn508Ser Uncertain significance Single submitter
- SRRT p.Asn519Ser Uncertain significance Single submitter
- SRRT p.Asn598Ser Uncertain significance Single submitter
- SRRT p.Asn626Lys Uncertain significance Single submitter
- SRRT p.Asn632Ser Uncertain significance Single submitter
- SRRT p.Asp306Ala Uncertain significance Single submitter
- SRRT p.Asp333Asn Uncertain significance Single submitter
- SRRT p.Asp59Val Uncertain significance Single submitter
- SRRT p.Cys490Arg Uncertain significance Single submitter
- SRRT p.Gln211Arg Uncertain significance Single submitter
- SRRT p.Gln378His Uncertain significance Single submitter
- SRRT p.Gln515Glu Uncertain significance Single submitter
- SRRT p.Gln775Glu Uncertain significance Single submitter
- SRRT p.Gln800His Uncertain significance Single submitter
- SRRT p.Glu288Gly Uncertain significance Single submitter
- SRRT p.Glu575Gln Uncertain significance Single submitter
- SRRT p.Glu575Val Uncertain significance Single submitter
- SRRT p.Glu603Asp Uncertain significance Single submitter
- SRRT p.Glu682Asp Uncertain significance Single submitter
- SRRT p.Gly102Ala Uncertain significance Single submitter
- SRRT p.Gly298Arg Uncertain significance Single submitter
- SRRT p.Gly312Ser Uncertain significance Single submitter
- SRRT p.Gly377Ser Uncertain significance Single submitter
- SRRT p.Gly53Ser Uncertain significance Single submitter
- SRRT p.Gly657Arg Uncertain significance Single submitter
- SRRT p.His529Tyr Uncertain significance Single submitter
- SRRT p.Ile246Val Uncertain significance Single submitter
- SRRT p.Ile438Val Uncertain significance Single submitter
- SRRT p.Ile618Val Uncertain significance Single submitter
- SRRT p.Ile740Met Uncertain significance Single submitter
- SRRT p.Ile805Phe Uncertain significance Single submitter
- SRRT p.Leu777Phe Uncertain significance Single submitter
- SRRT p.Lys327Thr Uncertain significance Single submitter
- SRRT p.Lys338Arg Uncertain significance Single submitter
- SRRT p.Lys350Arg Uncertain significance Single submitter
- SRRT p.Lys383Glu Uncertain significance Single submitter
- SRRT p.Pro146Leu Uncertain significance Single submitter
- SRRT p.Pro283Ser Uncertain significance Single submitter
- SRRT p.Pro404Leu Uncertain significance Single submitter
- SRRT p.Pro545Leu Uncertain significance Single submitter
- SRRT p.Pro589Leu Uncertain significance Single submitter
- SRRT p.Pro594Leu Uncertain significance Single submitter
- SRRT p.Pro637Leu Uncertain significance Single submitter
- SRRT p.Pro650Gln Uncertain significance Single submitter
- SRRT p.Pro771Ser Uncertain significance Single submitter
- SRRT p.Pro792Leu Uncertain significance Single submitter
- SRRT p.Ser284Asn Uncertain significance Single submitter
- SRRT p.Ser328Ala Uncertain significance Single submitter
- SRRT p.Ser328Leu Uncertain significance Single submitter
- SRRT p.Ser550Ile Uncertain significance Single submitter
- SRRT p.Ser89Pro Uncertain significance Single submitter
- SRRT p.Thr325Ile Uncertain significance Single submitter
- SRRT p.Thr671Met Uncertain significance Single submitter
- SRRT p.Tyr109Phe Uncertain significance Single submitter
- SRRT p.Val120Ile Uncertain significance Single submitter
- SRRT p.Val504Ile Uncertain significance Single submitter
- SRRT p.Val743Ala Uncertain significance Single submitter
Predictors split 30
The independent predictors disagree with each other — read with care.
- SRRT p.Ala451Val Uncertain significance Single submitter
- SRRT p.Arg209Cys Uncertain significance Single submitter
- SRRT p.Arg210Trp Uncertain significance Single submitter
- SRRT p.Arg214Trp Uncertain significance Single submitter
- SRRT p.Arg222Trp Uncertain significance Single submitter
-
SRRT p.Arg354Trp
Uncertain significance
Single submitter
SRRT-related condition
- SRRT p.Arg415Gln Uncertain significance Single submitter
- SRRT p.Arg47His Uncertain significance Single submitter
- SRRT p.Arg601Gln Uncertain significance Single submitter
- SRRT p.Arg60Gln Uncertain significance Single submitter
- SRRT p.Arg60Trp Uncertain significance Single submitter
- SRRT p.Arg62Trp Uncertain significance Single submitter
- SRRT p.Arg653Cys Uncertain significance Single submitter
- SRRT p.Arg65Cys Uncertain significance Single submitter
- SRRT p.Arg70His Uncertain significance Single submitter
- SRRT p.Gln512His Uncertain significance Single submitter
- SRRT p.Gln515Arg Uncertain significance Single submitter
- SRRT p.Gly578Arg Uncertain significance Single submitter
- SRRT p.Gly811Cys Uncertain significance Single submitter
- SRRT p.Gly843Arg Uncertain significance Single submitter
- SRRT p.Leu452Phe Uncertain significance Single submitter
- SRRT p.Leu73Pro Uncertain significance Single submitter
- SRRT p.Phe839Leu Uncertain significance Single submitter
- SRRT p.Pro672Leu Uncertain significance Single submitter
- SRRT p.Ser472Gly Uncertain significance Single submitter
- SRRT p.Ser88Arg Uncertain significance Single submitter
- SRRT p.Thr261Met Uncertain significance Single submitter
- SRRT p.Thr705Met Uncertain significance Single submitter
- SRRT p.Trp232Arg Uncertain significance Single submitter
- SRRT p.Trp43Cys Uncertain significance Single submitter
All SRRT variants
Benign 8
- c.1042-18C>G Multiple submitters
- c.1042-7C>T Multiple submitters
- c.2556-9A>T Multiple submitters
- p.Arg518= Multiple submitters
- p.Glu205= Multiple submitters
- p.Leu157= Multiple submitters
- p.Leu265= Multiple submitters
- p.Ile557= Single submitter
Likely benign 4
- p.Asn321Ser Single submitter
- p.Asn632= Single submitter
- p.Asp119= Single submitter
- p.Glu307Asp Single submitter
Uncertain significance 116
- p.Ala190Val Single submitter ⚠
- p.Ala216fs Single submitter
- p.Ala245Gly Single submitter ⚠
- p.Ala291Ser Single submitter ⚠
- p.Ala379Ser Single submitter ⚠
- p.Ala451Val Single submitter ⚠
- p.Ala583Val Single submitter ⚠
- p.Ala748Thr Single submitter ⚠
- p.Ala748Val Single submitter ⚠
- p.Ala812Val Single submitter ⚠
- p.Ala827Gly Single submitter ⚠
- p.Ala827Ser Single submitter ⚠
- p.Ala838Pro Single submitter ⚠
- p.Arg209Cys Single submitter ⚠
- p.Arg210Gln Single submitter ⚠
- p.Arg210Trp Single submitter ⚠
- p.Arg214Gln Single submitter ⚠
- p.Arg214Trp Single submitter ⚠
- p.Arg222Trp Single submitter ⚠
- p.Arg25His Single submitter ⚠
- p.Arg266His Single submitter ⚠
- p.Arg300Cys Single submitter ⚠
- p.Arg300His Single submitter ⚠
- p.Arg354Gln Single submitter ⚠
- p.Arg354Trp Single submitter SRRT-related condition ⚠
- p.Arg415Gln Single submitter ⚠
- p.Arg463Cys Single submitter ⚠
- p.Arg47His Single submitter ⚠
- p.Arg601Gln Single submitter ⚠
- p.Arg60Gln Single submitter ⚠
- p.Arg60Trp Single submitter ⚠
- p.Arg62Trp Single submitter ⚠
- p.Arg653Cys Single submitter ⚠
- p.Arg65Cys Single submitter ⚠
- p.Arg677Gln Single submitter ⚠
- p.Arg70His Single submitter ⚠
- p.Arg729Cys Single submitter ⚠
- p.Arg79Pro Single submitter ⚠
- p.Arg802Trp Single submitter ⚠
- p.Arg865Trp Single submitter ⚠
- p.Asn508Ile Single submitter ⚠
- p.Asn508Ser Single submitter ⚠
- p.Asn519Ser Single submitter ⚠
- p.Asn598Ser Single submitter ⚠
- p.Asn626Lys Single submitter ⚠
- p.Asn632Ser Single submitter ⚠
- p.Asp306Ala Single submitter ⚠
- p.Asp333Asn Single submitter ⚠
- p.Asp59Val Single submitter ⚠
- p.Cys490Arg Single submitter ⚠
- p.Gln211Arg Single submitter ⚠
- p.Gln378His Single submitter ⚠
- p.Gln512His Single submitter ⚠
- p.Gln515Arg Single submitter ⚠
- p.Gln515Glu Single submitter ⚠
- p.Gln775Glu Single submitter ⚠
- p.Gln800His Single submitter ⚠
- p.Glu288Gly Single submitter ⚠
- p.Glu575Gln Single submitter ⚠
- p.Glu575Val Single submitter ⚠
- p.Glu603Asp Single submitter ⚠
- p.Glu682Asp Single submitter ⚠
- p.Gly102Ala Single submitter ⚠
- p.Gly298Arg Single submitter ⚠
- p.Gly312Ser Single submitter ⚠
- p.Gly377Ser Single submitter ⚠
- p.Gly53Ser Single submitter ⚠
- p.Gly578Arg Single submitter ⚠
- p.Gly657Arg Single submitter ⚠
- p.Gly811Cys Single submitter ⚠
- p.Gly843Arg Single submitter ⚠
- p.His529Tyr Single submitter ⚠
- p.Ile246Val Single submitter ⚠
- p.Ile438Val Single submitter ⚠
- p.Ile618Met Single submitter
- p.Ile618Val Single submitter ⚠
- p.Ile740Met Single submitter ⚠
- p.Ile805Phe Single submitter ⚠
- p.Leu452Phe Single submitter ⚠
- p.Leu73Pro Single submitter ⚠
- p.Leu777Phe Single submitter ⚠
- p.Lys327Thr Single submitter ⚠
- p.Lys338Arg Single submitter ⚠
- p.Lys350Arg Single submitter ⚠
- p.Lys383Glu Single submitter ⚠
- p.Phe839Leu Single submitter ⚠
- p.Pro146Leu Single submitter ⚠
- p.Pro283Ser Single submitter ⚠
- p.Pro404Leu Single submitter ⚠
- p.Pro545Leu Single submitter ⚠
- p.Pro589Leu Single submitter ⚠
- p.Pro594Leu Single submitter ⚠
- p.Pro637Leu Single submitter ⚠
- p.Pro650Gln Single submitter ⚠
- p.Pro672Leu Single submitter ⚠
- p.Pro771Ser Single submitter ⚠
- p.Pro792Leu Single submitter ⚠
- p.Ser284Asn Single submitter ⚠
- p.Ser328Ala Single submitter ⚠
- p.Ser328Leu Single submitter ⚠
- p.Ser472Gly Single submitter ⚠
- p.Ser550Ile Single submitter ⚠
- p.Ser88Arg Single submitter ⚠
- p.Ser89Pro Single submitter ⚠
- p.Thr261Met Single submitter ⚠
- p.Thr325Ile Single submitter ⚠
- p.Thr671Met Single submitter ⚠
- p.Thr705Met Single submitter ⚠
- p.Trp232Arg Single submitter ⚠
- p.Trp43Cys Single submitter ⚠
- p.Tyr109Phe Single submitter ⚠
- p.Tyr836Cys Single submitter
- p.Tyr836Ser Single submitter
- p.Val120Ile Single submitter ⚠
- p.Val504Ile Single submitter ⚠
- p.Val743Ala Single submitter ⚠