ClinVar Miner

Submissions for variant NM_133642.5(LARGE1):c.755C>T (p.Ala252Val)

gnomAD frequency: 0.00001  dbSNP: rs764632554
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002010332 SCV002284736 uncertain significance Muscular dystrophy-dystroglycanopathy type B6 2021-08-12 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 252 of the LARGE1 protein (p.Ala252Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs764632554, ExAC 0.002%). This variant has not been reported in the literature in individuals affected with LARGE1-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.
Revvity Omics, Revvity RCV003134336 SCV003816467 uncertain significance not provided 2022-07-25 criteria provided, single submitter clinical testing

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