MSTN — 93 ClinVar variants
All ClinVar germline MSTN variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 40 flagged for review →
1 Pathogenic · 1 Conflicting · 22 Benign · 5 Benign/Likely benign · 9 Likely benign · 55 Uncertain significance
Full MSTN gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 40
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.
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MSTN p.Arg88Gln
Conflicting
Single submitter
myostatin-related muscle hypertrophy
Predictors lean, ClinVar uncertain 34
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- MSTN p.Ala300Val Uncertain significance Single submitter
- MSTN p.Ala306Thr Uncertain significance Single submitter
- MSTN p.Ala55Val Uncertain significance Single submitter
- MSTN p.Arg265Lys Uncertain significance Single submitter
- MSTN p.Arg371Cys Uncertain significance Single submitter
- MSTN p.Arg371His Uncertain significance Single submitter
- MSTN p.Asn149Ser Uncertain significance Single submitter
- MSTN p.Asp236Glu Uncertain significance Single submitter
- MSTN p.Asp247Asn Uncertain significance Single submitter
- MSTN p.Asp273Glu Uncertain significance Single submitter
- MSTN p.Asp289Glu Uncertain significance Single submitter
- MSTN p.Asp370His Uncertain significance Single submitter
- MSTN p.Gln213His Uncertain significance Single submitter
- MSTN p.Gly234Asp Uncertain significance Single submitter
- MSTN p.Gly294Ala Uncertain significance Single submitter
- MSTN p.His328Tyr Uncertain significance Single submitter
- MSTN p.Ile177Leu Uncertain significance Single submitter
- MSTN p.Ile91Thr Uncertain significance Single submitter
- MSTN p.Leu212Val Uncertain significance Single submitter
- MSTN p.Lys136Arg Uncertain significance Single submitter
- MSTN p.Lys136Gln Uncertain significance Single submitter
- MSTN p.Lys30Thr Uncertain significance Single submitter
- MSTN p.Met180Val Uncertain significance Single submitter
- MSTN p.Met367Ile Uncertain significance Single submitter
- MSTN p.Phe241Leu Uncertain significance Single submitter
- MSTN p.Pro166Ser Uncertain significance Single submitter
- MSTN p.Pro244Ala Uncertain significance Single submitter
- MSTN p.Pro244Ser Uncertain significance Single submitter
- MSTN p.Pro261Ala Uncertain significance Single submitter
- MSTN p.Pro285Ser Uncertain significance Single submitter
- MSTN p.Thr187Asn Uncertain significance Single submitter
- MSTN p.Thr200Ser Uncertain significance Single submitter
- MSTN p.Val288Met Uncertain significance Single submitter
-
MSTN p.Val33Ala
Uncertain significance
Single submitter
myostatin-related muscle hypertrophy
Predictors split 5
The independent predictors disagree with each other — read with care.
-
MSTN p.Gly183Arg
Uncertain significance
Single submitter
myostatin-related muscle hypertrophy
- MSTN p.Gly334Asp Uncertain significance Single submitter
-
MSTN p.Gly362Glu
Uncertain significance
Single submitter
myostatin-related muscle hypertrophy
-
MSTN p.Leu156Ile
Likely benign
Single submitter
myostatin-related muscle hypertrophy
- MSTN p.Pro332Arg Uncertain significance Single submitter
All MSTN variants
Pathogenic 1
- c.373+5G>A No assertion criteria myostatin-related muscle hypertrophy
Conflicting classifications of pathogenicity 1
- p.Arg88Gln Single submitter myostatin-related muscle hypertrophy ⚠
Benign 22
- c.374-84A>T Multiple submitters
- c.*135G>A Multiple submitters myostatin-related muscle hypertrophy
- c.*273C>G Multiple submitters myostatin-related muscle hypertrophy
- c.*290C>T Multiple submitters myostatin-related muscle hypertrophy
- c.*742C>T Multiple submitters myostatin-related muscle hypertrophy
- p.Ala55Thr Multiple submitters myostatin-related muscle hypertrophy
- p.Arg266= Multiple submitters
- p.Lys153Arg Multiple submitters myostatin-related muscle hypertrophy
- c.373+90del Single submitter
- c.374-130G>A Single submitter
- c.747+8A>G Single submitter myostatin-related muscle hypertrophy
- c.748-128C>T Single submitter
- c.-17A>C Single submitter myostatin-related muscle hypertrophy
- c.*1203G>C Single submitter myostatin-related muscle hypertrophy
- c.*1332A>G Single submitter myostatin-related muscle hypertrophy
- c.*1362A>G Single submitter myostatin-related muscle hypertrophy
- c.*1450T>C Single submitter myostatin-related muscle hypertrophy
- c.*1514C>G Single submitter myostatin-related muscle hypertrophy
- c.*395A>C Single submitter myostatin-related muscle hypertrophy
- c.*40G>T Single submitter myostatin-related muscle hypertrophy
- c.*493G>A Single submitter myostatin-related muscle hypertrophy
- p.Thr184Ile Single submitter myostatin-related muscle hypertrophy
Benign/Likely benign 5
- p.Glu164Lys Multiple submitters myostatin-related muscle hypertrophy
- p.Ile225Thr Multiple submitters myostatin-related muscle hypertrophy
- p.Ile60= Multiple submitters myostatin-related muscle hypertrophy
- p.Met129Arg Multiple submitters myostatin-related muscle hypertrophy
- p.Ser102= Multiple submitters myostatin-related muscle hypertrophy
Likely benign 9
- c.748-3C>T Single submitter myostatin-related muscle hypertrophy
- c.*41G>T Single submitter myostatin-related muscle hypertrophy
- c.*574G>A Single submitter myostatin-related muscle hypertrophy
- p.Asn354= Single submitter myostatin-related muscle hypertrophy
- p.Gln172His Single submitter myostatin-related muscle hypertrophy
- p.Leu156Ile Single submitter myostatin-related muscle hypertrophy ⚠
- p.Ser50= Single submitter
- p.Arg65His No assertion criteria MSTN-related disorder
- p.Leu15= No assertion criteria MSTN-related disorder
Uncertain significance 55
- c.*695A>C Multiple submitters myostatin-related muscle hypertrophy
- c.-99G>A Single submitter myostatin-related muscle hypertrophy
- c.*1063A>G Single submitter myostatin-related muscle hypertrophy
- c.*1073G>T Single submitter myostatin-related muscle hypertrophy
- c.*121A>G Single submitter myostatin-related muscle hypertrophy
- c.*1273C>T Single submitter myostatin-related muscle hypertrophy
- c.*127T>C Single submitter myostatin-related muscle hypertrophy
- c.*1316C>G Single submitter myostatin-related muscle hypertrophy
- c.*259A>G Single submitter myostatin-related muscle hypertrophy
- c.*336C>A Single submitter myostatin-related muscle hypertrophy
- c.*697T>C Single submitter myostatin-related muscle hypertrophy
- c.*784G>A Single submitter myostatin-related muscle hypertrophy
- c.*923T>C Single submitter myostatin-related muscle hypertrophy
- p.Ala300Val Single submitter ⚠
- p.Ala306Thr Single submitter ⚠
- p.Ala55Val Single submitter ⚠
- p.Arg265Lys Single submitter ⚠
- p.Arg371Cys Single submitter ⚠
- p.Arg371His Single submitter ⚠
- p.Arg78= Single submitter
- p.Asn149Ser Single submitter ⚠
- p.Asp236Glu Single submitter ⚠
- p.Asp247Asn Single submitter ⚠
- p.Asp273Glu Single submitter ⚠
- p.Asp289Glu Single submitter ⚠
- p.Asp370His Single submitter ⚠
- p.Gln213His Single submitter ⚠
- p.Gly183Arg Single submitter myostatin-related muscle hypertrophy ⚠
- p.Gly234Asp Single submitter ⚠
- p.Gly294Ala Single submitter ⚠
- p.Gly334Asp Single submitter ⚠
- p.Gly362Glu Single submitter myostatin-related muscle hypertrophy ⚠
- p.His328Tyr Single submitter ⚠
- p.Ile177Leu Single submitter ⚠
- p.Ile299= Single submitter myostatin-related muscle hypertrophy
- p.Ile91Thr Single submitter ⚠
- p.Leu212Val Single submitter ⚠
- p.Lys136Arg Single submitter ⚠
- p.Lys136Gln Single submitter ⚠
- p.Lys30Thr Single submitter ⚠
- p.Met180Val Single submitter ⚠
- p.Met367Ile Single submitter ⚠
- p.Phe241Leu Single submitter ⚠
- p.Pro166Ser Single submitter ⚠
- p.Pro244Ala Single submitter ⚠
- p.Pro244Ser Single submitter ⚠
- p.Pro261Ala Single submitter ⚠
- p.Pro285Ser Single submitter ⚠
- p.Pro332Arg Single submitter ⚠
- p.Thr187Asn Single submitter ⚠
- p.Thr200Ser Single submitter ⚠
- p.Val151= Single submitter myostatin-related muscle hypertrophy
- p.Val171= Single submitter myostatin-related muscle hypertrophy
- p.Val288Met Single submitter ⚠
- p.Val33Ala Single submitter myostatin-related muscle hypertrophy ⚠