ClinVar Miner

Submissions for variant NM_000252.3(MTM1):c.175A>G (p.Ile59Val)

gnomAD frequency: 0.00002  dbSNP: rs782451760
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001214396 SCV001386077 uncertain significance Severe X-linked myotubular myopathy 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 59 of the MTM1 protein (p.Ile59Val). The isoleucine residue is weakly conserved and there is a small physicochemical difference between isoleucine and valine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Revvity Omics, Revvity RCV003490125 SCV004236396 uncertain significance not provided 2023-06-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV001214396 SCV002084506 uncertain significance Severe X-linked myotubular myopathy 2021-07-23 no assertion criteria provided clinical testing

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