BTRC — 110 ClinVar variants
All ClinVar germline BTRC variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 75 flagged for review →
6 Benign · 28 Likely benign · 76 Uncertain significance
Full BTRC gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 75
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 46
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BTRC p.Leu271Phe Uncertain significance Multiple submitters
- BTRC p.Leu86Phe Uncertain significance Multiple submitters
- BTRC p.Ala262Pro Uncertain significance Single submitter
- BTRC p.Ala47Thr Uncertain significance Single submitter
- BTRC p.Ala96Pro Uncertain significance Single submitter
- BTRC p.Arg299Gln Uncertain significance Single submitter
- BTRC p.Arg419Gln Uncertain significance Single submitter
- BTRC p.Arg518Thr Uncertain significance Single submitter
- BTRC p.Arg549Gln Uncertain significance Single submitter
- BTRC p.Arg549Pro Uncertain significance Single submitter
- BTRC p.Arg594His Uncertain significance Single submitter
- BTRC p.Asn113Ser Uncertain significance Single submitter
- BTRC p.Asp329Gly Uncertain significance Single submitter
- BTRC p.Cys39Phe Uncertain significance Single submitter
- BTRC p.Cys39Tyr Uncertain significance Single submitter
- BTRC p.Cys60Tyr Uncertain significance Single submitter
- BTRC p.Gln314Glu Uncertain significance Single submitter
- BTRC p.Gln78Lys Uncertain significance Single submitter
- BTRC p.Glu10Gln Uncertain significance Single submitter
- BTRC p.Gly319Asp Uncertain significance Single submitter
- BTRC p.Gly424Arg Uncertain significance Single submitter
- BTRC p.His191Pro Uncertain significance Single submitter
- BTRC p.Ile181Met Uncertain significance Single submitter
- BTRC p.Ile380Val Uncertain significance Single submitter
- BTRC p.Leu126Pro Uncertain significance Single submitter
- BTRC p.Leu13Ile Uncertain significance Single submitter
- BTRC p.Leu210Arg Uncertain significance Single submitter
- BTRC p.Leu95Val Uncertain significance Single submitter
- BTRC p.Lys517Arg Uncertain significance Single submitter
- BTRC p.Met100Arg Uncertain significance Single submitter
- BTRC p.Pro121Ser Uncertain significance Single submitter
- BTRC p.Pro592Leu Uncertain significance Single submitter
- BTRC p.Pro592Ser Uncertain significance Single submitter
- BTRC p.Pro593Arg Uncertain significance Single submitter
- BTRC p.Pro593Leu Uncertain significance Single submitter
- BTRC p.Pro65Thr Uncertain significance Single submitter
- BTRC p.Ser117Asn Uncertain significance Single submitter
- BTRC p.Ser28Pro Uncertain significance Single submitter
- BTRC p.Thr364Met Uncertain significance Single submitter
- BTRC p.Thr453Ile Uncertain significance Single submitter
- BTRC p.Trp286Arg Uncertain significance Single submitter
- BTRC p.Tyr251Ser Uncertain significance Single submitter
- BTRC p.Tyr602Cys Uncertain significance Single submitter
- BTRC p.Val138Ile Uncertain significance Single submitter
- BTRC p.Val450Gly Uncertain significance Single submitter
- BTRC p.Val7Leu Uncertain significance Single submitter
Predictors split 29
The independent predictors disagree with each other — read with care.
- BTRC p.Pro592His Benign Multiple submitters
- BTRC p.Arg124Gln Uncertain significance Single submitter
- BTRC p.Arg337Gln Uncertain significance Single submitter
- BTRC p.Arg475Lys Uncertain significance Single submitter
- BTRC p.Arg477Gly Uncertain significance Single submitter
- BTRC p.Arg513Gln Uncertain significance Single submitter
- BTRC p.Arg598Gln Likely benign Single submitter
- BTRC p.Asn393Thr Uncertain significance Single submitter
- BTRC p.Asp329Asn Uncertain significance Single submitter
- BTRC p.Gly26Asp Uncertain significance Single submitter
- BTRC p.Gly26Cys Uncertain significance Single submitter
- BTRC p.Gly544Arg Uncertain significance Single submitter
- BTRC p.Ile439Val Uncertain significance Single submitter
- BTRC p.Ile448Val Uncertain significance Single submitter
- BTRC p.Ile577Val Uncertain significance Single submitter
- BTRC p.Leu176Met Uncertain significance Single submitter
- BTRC p.Leu418Phe Uncertain significance Single submitter
- BTRC p.Phe267Leu Uncertain significance Single submitter
- BTRC p.Phe267Ser Uncertain significance Single submitter
- BTRC p.Pro593His Uncertain significance Single submitter
- BTRC p.Ser129Gly Uncertain significance Single submitter
- BTRC p.Ser237Cys Uncertain significance Single submitter
- BTRC p.Ser266Cys Uncertain significance Single submitter
- BTRC p.Ser266Tyr Uncertain significance Single submitter
- BTRC p.Ser28Phe Uncertain significance Single submitter
- BTRC p.Ser300Asn Uncertain significance Single submitter
- BTRC p.Thr487Ser Uncertain significance Single submitter
- BTRC p.Tyr130Cys Uncertain significance Single submitter
- BTRC p.Tyr216Cys Uncertain significance Single submitter
All BTRC variants
Benign 6
- c.556+7C>G Multiple submitters
- p.Ala543Ser Multiple submitters
- p.Ile229= Multiple submitters
- p.Pro592His Multiple submitters ⚠
- p.Thr281= Multiple submitters
- p.Thr414Ala Multiple submitters
Likely benign 28
- p.Leu387= Multiple submitters
- p.Pro592Arg Multiple submitters
- c.1098-14T>C Single submitter
- c.1098-16C>T Single submitter
- c.1348-19A>G Single submitter
- c.48+10C>A Single submitter
- c.49-4G>T Single submitter
- c.49-6C>T Single submitter
- c.557-11C>G Single submitter
- c.840+10T>A Single submitter
- c.841-13T>C Single submitter
- p.Ala497= Single submitter
- p.Ala541= Single submitter
- p.Arg287= Single submitter
- p.Arg549= Single submitter
- p.Arg598Gln Single submitter ⚠
- p.Asn265= Single submitter
- p.Glu457= Single submitter
- p.His388= Single submitter
- p.Ile168= Single submitter
- p.Phe15= Single submitter
- p.Ser170= Single submitter
- p.Ser198= Single submitter
- p.Ser555= Single submitter
- p.Thr364= Single submitter
- p.Thr378= Single submitter
- p.Val450= Single submitter
- c.-8C>T No assertion criteria BTRC-related disorder
Uncertain significance 76
- p.Leu271Phe Multiple submitters ⚠
- p.Leu86Phe Multiple submitters ⚠
- p.Ala262Pro Single submitter ⚠
- p.Ala47Thr Single submitter ⚠
- p.Ala96Pro Single submitter ⚠
- p.Arg124Gln Single submitter ⚠
- p.Arg299Gln Single submitter ⚠
- p.Arg337Gln Single submitter ⚠
- p.Arg419Gln Single submitter ⚠
- p.Arg475Lys Single submitter ⚠
- p.Arg477Gly Single submitter ⚠
- p.Arg513Gln Single submitter ⚠
- p.Arg518Thr Single submitter ⚠
- p.Arg549Gln Single submitter ⚠
- p.Arg549Pro Single submitter ⚠
- p.Arg594His Single submitter ⚠
- p.Asn113Ser Single submitter ⚠
- p.Asn393Thr Single submitter ⚠
- p.Asp329Asn Single submitter ⚠
- p.Asp329Gly Single submitter ⚠
- p.Cys39Phe Single submitter ⚠
- p.Cys39Tyr Single submitter ⚠
- p.Cys547fs Single submitter
- p.Cys60Tyr Single submitter ⚠
- p.Gln314Glu Single submitter ⚠
- p.Gln78Lys Single submitter ⚠
- p.Glu10Gln Single submitter ⚠
- p.Gly26Asp Single submitter ⚠
- p.Gly26Cys Single submitter ⚠
- p.Gly319Asp Single submitter ⚠
- p.Gly424Arg Single submitter ⚠
- p.Gly544Arg Single submitter ⚠
- p.His191Pro Single submitter ⚠
- p.His291fs Single submitter BTRC-related disorder
- p.Ile181Met Single submitter ⚠
- p.Ile380Val Single submitter ⚠
- p.Ile439Val Single submitter ⚠
- p.Ile448Val Single submitter ⚠
- p.Ile577Val Single submitter ⚠
- p.Leu126Pro Single submitter ⚠
- p.Leu13Ile Single submitter ⚠
- p.Leu176Met Single submitter ⚠
- p.Leu210Arg Single submitter ⚠
- p.Leu418Phe Single submitter ⚠
- p.Leu95Val Single submitter ⚠
- p.Lys173Ter Single submitter
- p.Lys517Arg Single submitter ⚠
- p.Met100Arg Single submitter ⚠
- p.Phe267Leu Single submitter ⚠
- p.Phe267Ser Single submitter ⚠
- p.Pro121Ser Single submitter ⚠
- p.Pro592Leu Single submitter ⚠
- p.Pro592Ser Single submitter ⚠
- p.Pro593Arg Single submitter ⚠
- p.Pro593His Single submitter ⚠
- p.Pro593Leu Single submitter ⚠
- p.Pro65Thr Single submitter ⚠
- p.Ser117Asn Single submitter ⚠
- p.Ser129Gly Single submitter ⚠
- p.Ser237Cys Single submitter ⚠
- p.Ser266Cys Single submitter ⚠
- p.Ser266Tyr Single submitter ⚠
- p.Ser28Phe Single submitter ⚠
- p.Ser28Pro Single submitter ⚠
- p.Ser300Asn Single submitter ⚠
- p.Thr364Met Single submitter ⚠
- p.Thr453Ile Single submitter ⚠
- p.Thr487Ser Single submitter ⚠
- p.Trp286Arg Single submitter ⚠
- p.Tyr130Cys Single submitter ⚠
- p.Tyr216Cys Single submitter ⚠
- p.Tyr251Ser Single submitter ⚠
- p.Tyr602Cys Single submitter ⚠
- p.Val138Ile Single submitter ⚠
- p.Val450Gly Single submitter ⚠
- p.Val7Leu Single submitter ⚠