ClinVar Miner

Submissions for variant NM_001127898.4(CLCN5):c.1486A>G (p.Ser496Gly)

gnomAD frequency: 0.00001  dbSNP: rs1249181679
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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 RCV002837799 SCV003208167 uncertain significance not provided 2022-10-14 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with CLCN5-related conditions. 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. 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. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 426 of the CLCN5 protein (p.Ser426Gly).
Fulgent Genetics, Fulgent Genetics RCV005045003 SCV005682709 uncertain significance Dent disease type 1; Hypophosphatemic rickets, X-linked recessive; X-linked recessive nephrolithiasis with renal failure; Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis 2023-12-27 criteria provided, single submitter clinical testing

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