ClinVar Miner

Submissions for variant NM_000252.3(MTM1):c.946G>A (p.Val316Ile)

dbSNP: rs2148497828
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002001107 SCV002267939 uncertain significance Severe X-linked myotubular myopathy 2021-10-19 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 316 of the MTM1 protein (p.Val316Ile). The valine residue is highly conserved and there is a small physicochemical difference between valine and isoleucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MTM1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.

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