ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.2690A>G (p.Lys897Arg)

dbSNP: rs897282559
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002319254 SCV001177267 uncertain significance Inborn genetic diseases; Nephrolithiasis/nephrocalcinosis 2019-03-11 criteria provided, single submitter clinical testing The p.K897R variant (also known as c.2690A>G), located in coding exon 6 of the CASR gene, results from an A to G substitution at nucleotide position 2690. The lysine at codon 897 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.

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