ClinVar Miner

Submissions for variant NM_000252.3(MTM1):c.1367T>C (p.Phe456Ser)

dbSNP: rs587783783
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146404 SCV000193690 pathogenic Severe X-linked myotubular myopathy 2013-02-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000146404 SCV000634486 uncertain significance Severe X-linked myotubular myopathy 2017-03-05 criteria provided, single submitter clinical testing In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. 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. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with an MTM1-related disease. ClinVar contains an entry for this variant (Variation ID: 158925). This sequence change replaces phenylalanine with serine at codon 456 of the MTM1 protein (p.Phe456Ser). The phenylalanine residue is highly conserved and there is a large physicochemical difference between phenylalanine and serine.

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