ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.508T>C (p.Ser170Pro)

dbSNP: rs1060502862
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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 RCV000458850 SCV000551002 uncertain significance Familial hypocalciuric hypercalcemia 1; Autosomal dominant hypocalcemia 1 2016-06-24 criteria provided, single submitter clinical testing This sequence change replaces serine with proline at codon 170 of the CASR protein (p.Ser170Pro). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and proline. 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 disruptive, but these predictions have not been confirmed by published functional studies. 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.

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