MTDH — 97 ClinVar variants

All ClinVar germline MTDH variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 89 flagged for review →

3 Benign · 1 Benign/Likely benign · 2 Likely benign · 91 Uncertain significance

Full MTDH gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 89

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 76

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 13

The independent predictors disagree with each other — read with care.

All MTDH variants

Benign 3

c.1679-6T>C Single submitter
p.Leu103Val Single submitter
p.Lys451= Single submitter

Benign/Likely benign 1

p.Val54Met Multiple submitters

Likely benign 2

p.Ser308Pro Single submitter
p.Val501Ala Single submitter

Uncertain significance 91

p.Ala136Thr Single submitter ⚠
p.Ala136Val Single submitter ⚠
p.Ala238Thr Single submitter ⚠
p.Ala329Ser Single submitter ⚠
p.Ala72Val Single submitter ⚠
p.Ala94Gly Single submitter ⚠
p.Ala94Val Single submitter ⚠
p.Ala99Val Single submitter ⚠
p.Arg131Gln Single submitter ⚠
p.Arg181Cys Single submitter ⚠
p.Arg181His Single submitter ⚠
p.Arg207Cys Single submitter ⚠
p.Arg343Gly Single submitter ⚠
p.Arg343Leu Single submitter ⚠
p.Arg4Trp Single submitter ⚠
p.Arg580Gln Single submitter ⚠
p.Asn254Asp Single submitter ⚠
p.Asn254Ser Single submitter ⚠
p.Asn403Ile Single submitter ⚠
p.Asn476Ile Single submitter ⚠
p.Asn505His Single submitter ⚠
p.Asn549Asp Single submitter ⚠
p.Asp156Val Single submitter ⚠
p.Asp188Val Single submitter ⚠
p.Asp328Gly Single submitter ⚠
p.Asp367Asn Single submitter ⚠
p.Asp367Val Single submitter
p.Asp39Asn Single submitter ⚠
p.Asp428Tyr Single submitter ⚠
p.Asp544Glu Single submitter ⚠
p.Cys75Tyr Single submitter ⚠
p.Gln12Arg Single submitter ⚠
p.Gln256Glu Single submitter ⚠
p.Gln270Glu Single submitter ⚠
p.Gln365Arg Single submitter ⚠
p.Gln416Arg Single submitter ⚠
p.Gln452His Single submitter ⚠
p.Glu160Ala Single submitter ⚠
p.Glu233Lys Single submitter ⚠
p.Glu23Asp Single submitter ⚠
p.Glu23Lys Single submitter ⚠
p.Glu500Lys Single submitter ⚠
p.Glu519Lys Single submitter ⚠
p.Glu91Gln Single submitter ⚠
p.Gly138Ala Single submitter ⚠
p.Gly190Glu Single submitter ⚠
p.Gly28Ser Single submitter ⚠
p.Gly381Glu Single submitter ⚠
p.Gly435Arg Single submitter ⚠
p.Gly70Ala Single submitter ⚠
p.Gly70Arg Single submitter ⚠
p.Ile155Val Single submitter ⚠
p.Ile297Asn Single submitter ⚠
p.Ile345Met Single submitter ⚠
p.Ile345Thr Single submitter ⚠
p.Ile419Asn Single submitter ⚠
p.Ile539Val Single submitter ⚠
p.Leu109Val Single submitter ⚠
p.Leu279Phe Single submitter ⚠
p.Leu437Pro Single submitter ⚠
p.Lys158Glu Single submitter ⚠
p.Lys201Arg Single submitter ⚠
p.Lys245Arg Single submitter ⚠
p.Lys450Asn Single submitter ⚠
p.Lys545Glu Single submitter ⚠
p.Lys561Gln Single submitter ⚠
p.Lys573fs Single submitter
p.Phe260Leu Single submitter ⚠
p.Pro309Leu Single submitter ⚠
p.Pro482Leu Single submitter ⚠
p.Pro482Thr Single submitter ⚠
p.Pro537Leu Single submitter ⚠
p.Pro96Leu Single submitter ⚠
p.Pro96Thr Single submitter ⚠
p.Ser273Leu Single submitter ⚠
p.Ser341Gly Single submitter ⚠
p.Ser489Phe Single submitter ⚠
p.Ser496Gly Single submitter ⚠
p.Ser525Pro Single submitter ⚠
p.Ser534Pro Single submitter ⚠
p.Thr220Ala Single submitter ⚠
p.Thr231Ile Single submitter ⚠
p.Thr236Arg Single submitter ⚠
p.Thr236Lys Single submitter ⚠
p.Thr237Ile Single submitter ⚠
p.Thr458Ile Single submitter ⚠
p.Thr511Ile Single submitter ⚠
p.Thr543Ile Single submitter ⚠
p.Thr560Asn Single submitter ⚠
p.Trp379Gly Single submitter ⚠
p.Val95Gly Single submitter ⚠