ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.1526G>A (p.Gly509Glu)

dbSNP: rs1060502845
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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 RCV002230094 SCV000550957 uncertain significance Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2018-05-18 criteria provided, single submitter clinical testing This sequence change replaces glycine with glutamic acid at codon 509 of the CASR protein (p.Gly509Glu). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals with familial hypocalciuric hypercalcemia (FHH) (PMID: 26963950). ClinVar contains an entry for this variant (Variation ID: 410324). 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 disruptive, but these predictions have not been confirmed by published functional studies. 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.

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