ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.1609A>T (p.Ile537Leu)

dbSNP: rs148262047
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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 RCV000687424 SCV000814989 uncertain significance LAMA2-related muscular dystrophy 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 537 of the LAMA2 protein (p.Ile537Leu). This variant is present in population databases (rs148262047, gnomAD 0.007%). 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: 567365). 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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