ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.3010A>C (p.Ser1004Arg)

dbSNP: rs780255825
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002231744 SCV000638065 uncertain significance Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2020-08-23 criteria provided, single submitter clinical testing In summary, this variant has uncertain impact on CASR function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance. 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 and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with a CASR-related disease. This variant is present in population databases (rs780255825, ExAC 0.001%). This sequence change replaces serine with arginine at codon 1004 of the CASR protein (p.Ser1004Arg). The serine residue is weakly conserved and there is a moderate physicochemical difference between serine and arginine.

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