SF1 — 109 ClinVar variants
All ClinVar germline SF1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 43 flagged for review →
2 Likely pathogenic · 11 Likely benign · 96 Uncertain significance
Full SF1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 43
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 28
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SF1 p.Ala118Val Uncertain significance Single submitter
- SF1 p.Ala205Ser Uncertain significance Single submitter
- SF1 p.Ala307Ser Uncertain significance Single submitter
- SF1 p.Ala318Val Uncertain significance Single submitter
- SF1 p.Arg100Cys Uncertain significance Single submitter
- SF1 p.Arg46Gln Uncertain significance Single submitter
- SF1 p.Asp11Glu Uncertain significance Single submitter
- SF1 p.Cys279Ser Uncertain significance Single submitter
- SF1 p.Gly372Val Uncertain significance Single submitter
- SF1 p.Gly388Val Uncertain significance Single submitter
- SF1 p.Gly392Ala Uncertain significance Single submitter
- SF1 p.Gly393Val Uncertain significance Single submitter
-
SF1 p.Ile53Arg
Uncertain significance
Single submitter
neurodevelopmental disorder
- SF1 p.Leu70Pro Uncertain significance Single submitter
- SF1 p.Lys104Met Uncertain significance Single submitter
- SF1 p.Lys124Arg Uncertain significance Single submitter
- SF1 p.Met470Leu Uncertain significance Single submitter
- SF1 p.Met470Thr Uncertain significance Single submitter
- SF1 p.Met477Leu Uncertain significance Single submitter
- SF1 p.Pro349Ser Uncertain significance Single submitter
- SF1 p.Pro367Ser Uncertain significance Single submitter
- SF1 p.Pro394Ser Uncertain significance Single submitter
- SF1 p.Pro446Ala Uncertain significance Single submitter
- SF1 p.Pro455Leu Uncertain significance Single submitter
- SF1 p.Ser14Gly Uncertain significance Single submitter
- SF1 p.Ser396Gly Uncertain significance Single submitter
- SF1 p.Thr8Ala Uncertain significance Single submitter
- SF1 p.Trp424Arg Uncertain significance Single submitter
Predictors split 15
The independent predictors disagree with each other — read with care.
- SF1 p.Ala307Val Uncertain significance Single submitter
- SF1 p.Arg308Gln Uncertain significance Single submitter
- SF1 p.Arg377Trp Uncertain significance Single submitter
- SF1 p.Arg46Leu Uncertain significance Single submitter
- SF1 p.Asn6Lys Uncertain significance Single submitter
- SF1 p.Asp299Asn Uncertain significance Single submitter
- SF1 p.Gln504His Uncertain significance Single submitter
- SF1 p.Phe294Leu Uncertain significance Single submitter
- SF1 p.Pro354His Uncertain significance Single submitter
- SF1 p.Pro428Arg Uncertain significance Single submitter
- SF1 p.Pro42Ser Uncertain significance Single submitter
- SF1 p.Pro430Leu Uncertain significance Single submitter
- SF1 p.Pro479Leu Uncertain significance Single submitter
- SF1 p.Pro480Leu Uncertain significance Single submitter
- SF1 p.Ser333Phe Uncertain significance Single submitter
All SF1 variants
Likely pathogenic 2
- p.Pro590fs Single submitter SF1-related neurodevelopmental disorder
- p.Pro74fs Single submitter neurodevelopmental disorder
Likely benign 11
Uncertain significance 96
- c.31+105G>A Single submitter
- c.31+111C>G Single submitter
- c.31+112C>T Single submitter
- c.31+123C>T Single submitter
- c.31+12C>A Single submitter
- c.31+138G>A Single submitter
- c.31+139G>C Single submitter
- c.31+141G>A Single submitter
- c.31+178C>T Single submitter
- c.31+183C>T Single submitter
- c.31+196C>T Single submitter
- c.31+201C>T Single submitter
- c.31+210C>T Single submitter
- c.31+216C>T Single submitter
- c.31+225C>T Single submitter
- c.31+240T>G Single submitter
- c.31+24C>T Single submitter
- c.31+256A>G Single submitter
- c.31+259C>T Single submitter
- c.31+264C>T Single submitter
- c.31+265C>T Single submitter
- c.31+274C>T Single submitter
- c.31+276C>T Single submitter
- c.31+277C>T Single submitter
- c.31+282C>A Single submitter
- c.31+283C>T Single submitter
- c.31+285C>T Single submitter
- c.31+286C>T Single submitter
- c.31+28del Single submitter
- c.31+309C>T Single submitter
- c.31+310C>T Single submitter
- c.31+316C>G Single submitter
- c.31+325C>T Single submitter
- c.31+336C>T Single submitter
- c.31+339A>C Single submitter
- c.31+346A>G Single submitter
- c.31+349A>G Single submitter
- c.31+352C>T Single submitter
- c.31+358C>T Single submitter
- c.31+40C>T Single submitter
- c.31+54G>C Single submitter
- c.31+60G>A Single submitter
- c.31+7T>A Single submitter
- c.31+81C>T Single submitter
- c.779+2T>C Single submitter
- c.*332A>G Single submitter
- c.*339T>A Single submitter
- c.*348T>A Single submitter
- c.*348T>C Single submitter
- p.Ala118Val Single submitter ⚠
- p.Ala205Ser Single submitter ⚠
- p.Ala307Ser Single submitter ⚠
- p.Ala307Val Single submitter ⚠
- p.Ala318Val Single submitter ⚠
- p.Ala350_Asn351insAlaProAla Single submitter SF1-associated neurodevelopmental disorder
- p.Arg100Cys Single submitter ⚠
- p.Arg308Gln Single submitter ⚠
- p.Arg377Trp Single submitter ⚠
- p.Arg46Gln Single submitter ⚠
- p.Arg46Leu Single submitter ⚠
- p.Asn6Lys Single submitter ⚠
- p.Asp11Glu Single submitter ⚠
- p.Asp299Asn Single submitter ⚠
- p.Cys279Ser Single submitter ⚠
- p.Gln504His Single submitter ⚠
- p.Gln547Ter Single submitter
- p.Gly372Val Single submitter ⚠
- p.Gly388Val Single submitter ⚠
- p.Gly392Ala Single submitter ⚠
- p.Gly393Val Single submitter ⚠
- p.Ile53Arg Single submitter neurodevelopmental disorder ⚠
- p.Leu70Pro Single submitter ⚠
- p.Lys104Met Single submitter ⚠
- p.Lys124Arg Single submitter ⚠
- p.Met470Leu Single submitter ⚠
- p.Met470Thr Single submitter ⚠
- p.Met477Leu Single submitter ⚠
- p.Phe294Leu Single submitter ⚠
- p.Pro349Ser Single submitter ⚠
- p.Pro354His Single submitter ⚠
- p.Pro367Ser Single submitter ⚠
- p.Pro394Ser Single submitter ⚠
- p.Pro428Arg Single submitter ⚠
- p.Pro42Ser Single submitter ⚠
- p.Pro430Leu Single submitter ⚠
- p.Pro446Ala Single submitter ⚠
- p.Pro455Leu Single submitter ⚠
- p.Pro479Leu Single submitter ⚠
- p.Pro480Leu Single submitter ⚠
- p.Ser14Gly Single submitter ⚠
- p.Ser333Phe Single submitter ⚠
- p.Ser396Gly Single submitter ⚠
- p.Thr276Ala Single submitter
- p.Thr454fs Single submitter
- p.Thr8Ala Single submitter ⚠
- p.Trp424Arg Single submitter ⚠