ClinVar Miner

Submissions for variant NM_005559.4(LAMA1):c.6122C>T (p.Ala2041Val)

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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 RCV002636603 SCV003505606 uncertain significance not provided 2022-07-25 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with LAMA1-related conditions. This variant is present in population databases (rs778084183, gnomAD 0.02%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 2041 of the LAMA1 protein (p.Ala2041Val). 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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