ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.1748A>G (p.Tyr583Cys)

gnomAD frequency: 0.00001  dbSNP: rs370965146
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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 RCV001889925 SCV002139598 uncertain significance LAMA2-related muscular dystrophy 2024-12-02 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 583 of the LAMA2 protein (p.Tyr583Cys). This variant is present in population databases (rs370965146, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with LAMA2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1377523). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt LAMA2 protein function with a negative predictive value of 95%. 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.
Revvity Omics, Revvity RCV003134180 SCV003815829 uncertain significance not provided 2020-12-31 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003134180 SCV005407986 uncertain significance not provided 2023-11-29 criteria provided, single submitter clinical testing PM2_moderate

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