ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.8534G>T (p.Gly2845Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002928763 SCV003275161 uncertain significance LAMA2-related muscular dystrophy 2022-07-01 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 2845 of the LAMA2 protein (p.Gly2845Val). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with LAMA2-related conditions. 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 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.
Mayo Clinic Laboratories, Mayo Clinic RCV003481352 SCV004223940 uncertain significance not provided 2022-09-02 criteria provided, single submitter clinical testing PP3, PM2

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