ClinVar Miner

Submissions for variant NM_000252.3(MTM1):c.1561G>A (p.Val521Ile)

gnomAD frequency: 0.00001  dbSNP: rs782705509
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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 RCV002017834 SCV002300661 uncertain significance Severe X-linked myotubular myopathy 2021-08-01 criteria provided, single submitter clinical testing This variant is present in population databases (rs782705509, ExAC 0.01%), including at least one homozygous and/or hemizygous individual. This variant has not been reported in the literature in individuals affected with MTM1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The isoleucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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. This sequence change replaces valine with isoleucine at codon 521 of the MTM1 protein (p.Val521Ile). The valine residue is highly conserved and there is a small physicochemical difference between valine and isoleucine.

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