ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.1189G>A (p.Gly397Arg) (rs1064794291)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000684751 SCV000568684 uncertain significance not provided 2016-08-18 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the CASR gene. The G397R variant has been published previously in association with hypocalciuric hypercalcemia (Nissen et al., 2007; Christensen et al., 2008); however, many individuals who harbor this variant display only a moderate phenotype. The 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 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, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Gharavi Laboratory,Columbia University RCV000684751 SCV000809421 likely pathogenic not provided 2018-09-16 no assertion criteria provided research

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