ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.1669G>A (p.Gly557Arg)

dbSNP: rs2107648307
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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 RCV001366800 SCV001563117 uncertain significance Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2020-06-28 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). 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 disrupts the p.Gly557 amino acid residue in CASR. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 11762699, 16491288, 27434672). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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 glycine with arginine at codon 557 of the CASR protein (p.Gly557Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine.

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