ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.1702T>G (p.Cys568Gly)

dbSNP: rs1060502851
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002230095 SCV000550971 uncertain significance Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2016-11-18 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a CASR-related disease. 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, but these predictions have not been confirmed by published functional studies. In summary, this variant is a novel missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance. This sequence change replaces cysteine with glycine at codon 568 of the CASR protein (p.Cys568Gly). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and glycine.

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