ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.404T>C (p.Ile135Thr)

dbSNP: rs121913587
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000425572 SCV000521267 pathogenic not provided 2021-12-13 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek et al., 2016); Missense variants in this gene are often considered pathogenic (Stenson et al., 2014); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 29627640, 21107784, 9055797, 10737979, 29687021, 32959227, 33179255, 8664899, 26310628, 20461396)
3billion RCV001807729 SCV002058370 likely pathogenic Dejerine-Sottas disease 2022-01-03 criteria provided, single submitter clinical testing Same nucleotide change resulting in same amino acid change has been previously reported as pathogenic (ClinVar ID: VCV000014172, PMID:8664899, PS1). The variant has been previously reported as assumed (i.e. paternity and maternity not confirmed) de novo in at least one similarly affected unrelated individual (PMID_8664899, PM6_M). A different missense change at the same codon has been reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000861910, PMID:8797476,22018721,30340945, PM5_M). A missense variant is a common mechanism associated with Dejerine-Sottas disease (PP2_P). It is not observed in the gnomAD v2.1.1 dataset (PM2_M).Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
OMIM RCV000015235 SCV000035494 pathogenic Charcot-Marie-Tooth disease type 1B 1996-01-01 no assertion criteria provided literature only

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