ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.2777A>G (p.Gln926Arg) (rs200263975)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000225899 SCV000284792 likely benign Familial hypocalciuric hypercalcemia; Hypocalcemia, autosomal dominant 1 2020-12-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV001016559 SCV001177524 uncertain significance Inborn genetic diseases 2018-11-15 criteria provided, single submitter clinical testing The p.Q926R variant (also known as c.2777A>G), located in coding exon 6 of the CASR gene, results from an A to G substitution at nucleotide position 2777. The glutamine at codon 926 is replaced by arginine, an amino acid with highly similar properties. This variant was identified in an individual with familial hypocalciuric hypercalcemia (Rus R et al. J. Clin. Endocrinol. Metab., 2008 Dec;93:4797-803), as well as an individual with hyperparathyroidism and an unaffected parent (Frank-Raue K et al. Clin. Endocrinol. (Oxf), 2011 Jul;75:50-5). Analyses in HEK293 cells demonstrated similar protein expression , but altered responses to calcium, compared to wild type (Frank-Raue K et al. Clin. Endocrinol. (Oxf), 2011 Jul;75:50-5). This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on available evidence to date, the clinical significance of this alteration remains unclear.
Athena Diagnostics Inc RCV000054620 SCV001477109 likely benign not provided 2020-06-29 criteria provided, single submitter clinical testing
Martin Pollak Laboratory, Beth Israel Deaconess Medical Center RCV000054620 SCV000077310 unknown not provided no assertion criteria provided not provided Converted during submission to Uncertain significance.

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