ClinVar Miner

Submissions for variant NM_001077525.3(MTMR14):c.1385A>G (p.Tyr462Cys)

gnomAD frequency: 0.00002  dbSNP: rs121434510
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001851525 SCV002291315 uncertain significance not provided 2022-08-07 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1021). This variant has not been reported in the literature in individuals affected with MTMR14-related conditions. This variant is present in population databases (rs121434510, gnomAD 0.005%). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 462 of the MTMR14 protein (p.Tyr462Cys).
OMIM RCV000001076 SCV000021226 risk factor MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT, MODIFIER OF 2006-11-01 no assertion criteria provided literature only

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