ClinVar Miner

Submissions for variant NM_000252.3(MTM1):c.1300C>T (p.Arg434Cys)

gnomAD frequency: 0.00001  dbSNP: rs782664128
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001060844 SCV001225558 uncertain significance Severe X-linked myotubular myopathy 2020-02-18 criteria provided, single submitter clinical testing This variant is present in population databases (rs782664128, ExAC 0.02%), including at least one homozygous and/or hemizygous individual. 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 missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with MTM1-related conditions. This sequence change replaces arginine with cysteine at codon 434 of the MTM1 protein (p.Arg434Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine.
Natera, Inc. RCV001060844 SCV002084531 uncertain significance Severe X-linked myotubular myopathy 2020-10-25 no assertion criteria provided clinical testing

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