ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.1837G>A (p.Gly613Arg) (rs1060502842)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000494527 SCV000582967 likely pathogenic not provided 2016-01-21 criteria provided, single submitter clinical testing The G613R variant has been reported previously in a patient diagnosed with familial hypocalciuric hypercalcemia ( Rasmussen et al., 2011). The G613R variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The G613R variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Missense variants in nearby residues (E610G, F612S, L616V) have been reported in the Human Gene Mutation Database in association with calcium homeostasis disorders (Stenson et al., 2014), supporting the functional importance of this region of the protein. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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