ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.2870A>G (p.Gln957Arg)

gnomAD frequency: 0.00006  dbSNP: rs150979829
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000228722 SCV000284793 likely benign Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2024-10-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV004020757 SCV002751099 uncertain significance Nephrolithiasis/nephrocalcinosis 2024-10-24 criteria provided, single submitter clinical testing The p.Q957R variant (also known as c.2870A>G), located in coding exon 6 of the CASR gene, results from an A to G substitution at nucleotide position 2870. The glutamine at codon 957 is replaced by arginine, an amino acid with highly similar properties. 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003144170 SCV003829252 uncertain significance not provided 2022-06-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005031810 SCV005657442 uncertain significance Familial hypocalciuric hypercalcemia 1; Neonatal severe primary hyperparathyroidism; Epilepsy, idiopathic generalized, susceptibility to, 8; Autosomal dominant hypocalcemia 1 2024-05-24 criteria provided, single submitter clinical testing

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