ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.2140T>C (p.Phe714Leu)

dbSNP: rs1576877507
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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 RCV002319209 SCV001175318 uncertain significance Inborn genetic diseases; Nephrolithiasis/nephrocalcinosis 2019-10-30 criteria provided, single submitter clinical testing The p.F714L variant (also known as c.2140T>C), located in coding exon 6 of the CASR gene, results from a T to C substitution at nucleotide position 2140. The phenylalanine at codon 714 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species, and leucine is the reference amino acid in other 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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