ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.3769A>G (p.Ile1257Val)

gnomAD frequency: 0.00001  dbSNP: rs769358660
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001226718 SCV001399041 uncertain significance LAMA2-related muscular dystrophy 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 1257 of the LAMA2 protein (p.Ile1257Val). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and valine. This variant is present in population databases (rs769358660, ExAC 0.002%). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.

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