ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.981C>G (p.Ile327Met)

dbSNP: rs1240483254
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000558888 SCV000638089 uncertain significance Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2018-11-04 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with methionine at codon 327 of the CASR protein (p.Ile327Met). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and methionine. In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.

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