ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.686A>C (p.Glu229Ala)

dbSNP: rs2074625376
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001070649 SCV001235913 uncertain significance Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2019-04-07 criteria provided, single submitter clinical testing 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. This variant has been reported to have conflicting or insufficient data to determine the effect on CASR protein function (PMID:17478419). This variant has not been reported in the literature in individuals with CASR-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamic acid with alanine at codon 229 of the CASR protein (p.Glu229Ala). The glutamic acid residue is highly conserved and there is a moderate physicochemical difference between glutamic acid and alanine.

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