ClinVar Miner

Submissions for variant NM_000252.3(MTM1):c.481G>A (p.Val161Met)

gnomAD frequency: 0.00006  dbSNP: rs782744530
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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 RCV000693657 SCV000821534 uncertain significance Severe X-linked myotubular myopathy 2022-04-29 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 161 of the MTM1 protein (p.Val161Met). This variant is present in population databases (rs782744530, gnomAD 0.01%). This missense change has been observed in individual(s) with limb girdle muscular dystrophy (PMID: 27017278). ClinVar contains an entry for this variant (Variation ID: 572307). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV002291287 SCV002583676 uncertain significance not provided 2022-09-07 criteria provided, single submitter clinical testing PM2
Natera, Inc. RCV000693657 SCV002084516 uncertain significance Severe X-linked myotubular myopathy 2020-07-14 no assertion criteria provided clinical testing

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