ClinVar Miner

Submissions for variant NM_133642.5(LARGE1):c.1288C>G (p.Leu430Val)

dbSNP: rs775051738
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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 RCV000552813 SCV000638973 uncertain significance Muscular dystrophy-dystroglycanopathy type B6 2022-10-25 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 430 of the LARGE1 protein (p.Leu430Val). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with LARGE1-related conditions. ClinVar contains an entry for this variant (Variation ID: 464468). 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 RCV003133315 SCV003816476 uncertain significance not provided 2022-06-08 criteria provided, single submitter clinical testing

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