ClinVar Miner

Submissions for variant NM_001127898.4(CLCN5):c.2198C>T (p.Thr733Met)

gnomAD frequency: 0.00005  dbSNP: rs781924436
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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 RCV001239439 SCV001412314 uncertain significance not provided 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 663 of the CLCN5 protein (p.Thr663Met). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs781924436, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with CLCN5-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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.
Fulgent Genetics, Fulgent Genetics RCV002484307 SCV002803806 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 2022-05-04 criteria provided, single submitter clinical testing

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