MRPS7 — 133 ClinVar variants
All ClinVar germline MRPS7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 58 flagged for review →
1 Likely pathogenic · 2 Conflicting · 16 Benign · 7 Benign/Likely benign · 44 Likely benign · 63 Uncertain significance
Full MRPS7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 58
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 40
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- MRPS7 p.Ala9Thr Uncertain significance Multiple submitters
- MRPS7 p.Arg166Cys Uncertain significance Multiple submitters
- MRPS7 p.Arg192Gln Uncertain significance Multiple submitters
- MRPS7 p.Arg192Trp Uncertain significance Multiple submitters
- MRPS7 p.Arg21Gln Uncertain significance Multiple submitters
- MRPS7 p.Glu67Gln Uncertain significance Multiple submitters
- MRPS7 p.Met229Thr Uncertain significance Multiple submitters
- MRPS7 p.Met98Ile Uncertain significance Multiple submitters
- MRPS7 p.Pro202Leu Uncertain significance Multiple submitters
- MRPS7 p.Ala135Glu Uncertain significance Single submitter
- MRPS7 p.Arg139His Uncertain significance Single submitter
- MRPS7 p.Arg178His Uncertain significance Single submitter
- MRPS7 p.Arg180His Uncertain significance Single submitter
- MRPS7 p.Arg198Trp Uncertain significance Single submitter
- MRPS7 p.Asp176Gly Uncertain significance Single submitter
- MRPS7 p.Asp176Tyr Uncertain significance Single submitter
- MRPS7 p.Asp47Tyr Uncertain significance Single submitter
- MRPS7 p.Gln72Lys Uncertain significance Single submitter
- MRPS7 p.Glu57Ala Uncertain significance Single submitter
- MRPS7 p.Glu87Gln Uncertain significance Single submitter
- MRPS7 p.Ile112Val Uncertain significance Single submitter
- MRPS7 p.Ile156Thr Uncertain significance Single submitter
- MRPS7 p.Lys48Asn Uncertain significance Single submitter
- MRPS7 p.Lys75Ile Uncertain significance Single submitter
- MRPS7 p.Lys7Asn Uncertain significance Single submitter
- MRPS7 p.Met99Thr Uncertain significance Single submitter
- MRPS7 p.Pro175Ser Uncertain significance Single submitter
- MRPS7 p.Pro218Ser Uncertain significance Single submitter
- MRPS7 p.Pro4Arg Uncertain significance Single submitter
- MRPS7 p.Pro78Leu Uncertain significance Single submitter
- MRPS7 p.Pro89Gln Uncertain significance Single submitter
- MRPS7 p.Ser13Trp Uncertain significance Single submitter
- MRPS7 p.Ser38Asn Uncertain significance Single submitter
- MRPS7 p.Ser83Gly Uncertain significance Single submitter
- MRPS7 p.Thr143Ala Uncertain significance Single submitter
- MRPS7 p.Thr71Ala Uncertain significance Single submitter
- MRPS7 p.Val118Met Uncertain significance Single submitter
- MRPS7 p.Val32Gly Uncertain significance Single submitter
- MRPS7 p.Val65Ile Uncertain significance Single submitter
- MRPS7 p.Val90Ile Uncertain significance Single submitter
Predictors split 18
The independent predictors disagree with each other — read with care.
- MRPS7 p.Arg240Cys Uncertain significance Multiple submitters
- MRPS7 p.Glu138Lys Uncertain significance Multiple submitters
- MRPS7 p.Ala129Thr Uncertain significance Single submitter
- MRPS7 p.Ala131Gly Uncertain significance Single submitter
- MRPS7 p.Ala235Val Uncertain significance Single submitter
-
MRPS7 p.Arg179His
Conflicting
Single submitter
sensorineural hearing loss disorder
- MRPS7 p.Arg180Cys Uncertain significance Single submitter
- MRPS7 p.Arg180Gly Uncertain significance Single submitter
- MRPS7 p.Arg222Thr Uncertain significance Single submitter
- MRPS7 p.Arg234Cys Uncertain significance Single submitter
- MRPS7 p.Arg234His Uncertain significance Single submitter
- MRPS7 p.Gln122Leu Uncertain significance Single submitter
- MRPS7 p.Glu153Lys Uncertain significance Single submitter
- MRPS7 p.Glu61Gly Uncertain significance Single submitter
-
MRPS7 p.Met184Val
Conflicting
Single submitter
combined oxidative phosphorylation deficiency 34
- MRPS7 p.Phe41Leu Uncertain significance Single submitter
- MRPS7 p.Pro27Leu Uncertain significance Single submitter
- MRPS7 p.Val219Met Uncertain significance Single submitter
All MRPS7 variants
Likely pathogenic 1
- p.Lys125Ter Single submitter premature menopause
Conflicting classifications of pathogenicity 2
- p.Arg179His Single submitter sensorineural hearing loss disorder ⚠
- p.Met184Val Single submitter combined oxidative phosphorylation deficiency 34 ⚠
Benign 16
- c.339+135C>T Multiple submitters
- c.339+153T>C Multiple submitters
- c.83+137G>T Multiple submitters
- c.83+22G>C Multiple submitters
- c.83+23_83+24del Multiple submitters combined oxidative phosphorylation deficiency 34
- c.83+23C>G Multiple submitters combined oxidative phosphorylation deficiency 34
- c.83+245T>G Multiple submitters
- c.83+29G>T Multiple submitters
- c.84-74T>C Multiple submitters
- c.84-99C>T Multiple submitters
- c.*289T>C Multiple submitters
- p.Ala2Val Multiple submitters combined oxidative phosphorylation deficiency 34
- c.339+214dup Single submitter
- c.83+21_83+22del Single submitter
- c.83+23_83+25del Single submitter
- c.83+23del Single submitter
Benign/Likely benign 7
- c.84-7dup Multiple submitters
- c.84-8C>A Multiple submitters
- c.84-8C>T Multiple submitters
- p.Ala16Val Multiple submitters
- p.Arg198Gln Multiple submitters
- p.Asn215= Multiple submitters
- p.Pro39= Multiple submitters
Likely benign 44
- c.83+22dup Multiple submitters
- c.84-14T>C Multiple submitters
- c.84-80C>T Multiple submitters
- c.84-8C>G Multiple submitters
- p.Ala22= Multiple submitters
- p.Ala230Thr Multiple submitters
- p.Arg192= Multiple submitters
- p.Lys208= Multiple submitters
- c.275+20_275+21del Single submitter
- c.339+12T>C Single submitter
- c.339+16C>T Single submitter
- c.339+16del Single submitter
- c.339+19C>T Single submitter
- c.340-13T>C Single submitter
- c.507+18G>T Single submitter
- c.507+248T>C Single submitter
- c.508-10T>C Single submitter
- c.508-146C>T Single submitter
- c.508-4C>T Single submitter
- c.508-6A>G Single submitter
- c.83+16G>T Single submitter
- c.83+23C>T Single submitter
- c.84-7C>A Single submitter
- c.-50G>A Single submitter
- c.*266T>C Single submitter
- p.Ala9= Single submitter
- p.Arg166His Single submitter
- p.Arg177Gln Single submitter
- p.Asn233= Single submitter
- p.Gly18= Single submitter
- p.Ile137= Single submitter
- p.Ile74= Single submitter
- p.Leu17= Single submitter
- p.Leu174= Single submitter
- p.Lys194= Single submitter
- p.Lys63= Single submitter
- p.Phe41= Single submitter
- p.Pro175Ala Single submitter
- p.Pro218= Single submitter
- p.Pro44= Single submitter
- p.Thr143Ser Single submitter
- p.Thr199= Single submitter
- p.His146= No assertion criteria MRPS7-related disorder
- p.Pro171= No assertion criteria MRPS7-related disorder
Uncertain significance 63
- p.Ala9Thr Multiple submitters ⚠
- p.Arg166Cys Multiple submitters ⚠
- p.Arg192Gln Multiple submitters ⚠
- p.Arg192Trp Multiple submitters ⚠
- p.Arg21Gln Multiple submitters ⚠
- p.Arg240Cys Multiple submitters ⚠
- p.Glu138Lys Multiple submitters ⚠
- p.Glu67Gln Multiple submitters ⚠
- p.Met229Thr Multiple submitters ⚠
- p.Met98Ile Multiple submitters ⚠
- p.Pro202Leu Multiple submitters ⚠
- c.275+1G>A Single submitter
- c.276-13T>G Single submitter
- c.508-1G>A Single submitter combined oxidative phosphorylation deficiency 34
- c.84-3C>G Single submitter
- p.Ala129Thr Single submitter ⚠
- p.Ala131Gly Single submitter ⚠
- p.Ala135Glu Single submitter ⚠
- p.Ala235Val Single submitter ⚠
- p.Arg139His Single submitter ⚠
- p.Arg178His Single submitter ⚠
- p.Arg180Cys Single submitter ⚠
- p.Arg180Gly Single submitter ⚠
- p.Arg180His Single submitter ⚠
- p.Arg198Trp Single submitter ⚠
- p.Arg222Thr Single submitter ⚠
- p.Arg234Cys Single submitter ⚠
- p.Arg234His Single submitter ⚠
- p.Asp176Gly Single submitter ⚠
- p.Asp176Tyr Single submitter ⚠
- p.Asp47Tyr Single submitter ⚠
- p.Gln122Leu Single submitter ⚠
- p.Gln72Lys Single submitter ⚠
- p.Glu153Lys Single submitter ⚠
- p.Glu57Ala Single submitter ⚠
- p.Glu61Gly Single submitter ⚠
- p.Glu87Gln Single submitter ⚠
- p.Ile112Val Single submitter ⚠
- p.Ile156Thr Single submitter ⚠
- p.Lys48Asn Single submitter ⚠
- p.Lys75Ile Single submitter ⚠
- p.Lys7Asn Single submitter ⚠
- p.Met1_Ala2insValAlaProAlaValLys Single submitter
- p.Met99Thr Single submitter ⚠
- p.Phe41Leu Single submitter ⚠
- p.Pro175Ser Single submitter ⚠
- p.Pro218Ser Single submitter ⚠
- p.Pro27Leu Single submitter ⚠
- p.Pro4Arg Single submitter ⚠
- p.Pro78Leu Single submitter ⚠
- p.Pro89Gln Single submitter ⚠
- p.Ser13Trp Single submitter ⚠
- p.Ser38Asn Single submitter ⚠
- p.Ser83Gly Single submitter ⚠
- p.Ser84Phe Single submitter
- p.Thr114Ile Single submitter
- p.Thr143Ala Single submitter ⚠
- p.Thr71Ala Single submitter ⚠
- p.Val118Met Single submitter ⚠
- p.Val219Met Single submitter ⚠
- p.Val32Gly Single submitter ⚠
- p.Val65Ile Single submitter ⚠
- p.Val90Ile Single submitter ⚠