ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.1546G>A (p.Asp516Asn)

gnomAD frequency: 0.00006  dbSNP: rs141000358
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000334717 SCV000339393 uncertain significance not provided 2016-02-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001247189 SCV001420596 uncertain significance LAMA2-related muscular dystrophy 2021-09-05 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 516 of the LAMA2 protein (p.Asp516Asn). The aspartic acid residue is weakly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is not present in population databases (ExAC no frequency). 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: 286101). 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.
Revvity Omics, Revvity RCV000334717 SCV003812736 uncertain significance not provided 2019-07-10 criteria provided, single submitter clinical testing

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