ClinVar Miner

Submissions for variant NM_000252.3(MTM1):c.679G>A (p.Val227Met)

dbSNP: rs587783850
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146476 SCV000193765 pathogenic Severe X-linked myotubular myopathy 2013-02-08 criteria provided, single submitter clinical testing
Invitae RCV000146476 SCV003445273 likely pathogenic Severe X-linked myotubular myopathy 2022-05-03 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 227 of the MTM1 protein (p.Val227Met). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with X-linked myotubular myopathy (PMID: 10790201, 11793470, 17537630, 27363342). ClinVar contains an entry for this variant (Variation ID: 158997). 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000146476 SCV004801235 pathogenic Severe X-linked myotubular myopathy 2024-03-14 criteria provided, single submitter research

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