ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.43T>G (p.Trp15Gly)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MVZ Dr. Eberhard & Partner Dortmund RCV003991523 SCV004808622 uncertain significance Familial hypocalciuric hypercalcemia 1 criteria provided, single submitter clinical testing
Ambry Genetics RCV004371922 SCV005035288 uncertain significance Nephrolithiasis/nephrocalcinosis 2023-06-24 criteria provided, single submitter clinical testing The p.W15G variant (also known as c.43T>G), located in coding exon 1 of the CASR gene, results from a T to G substitution at nucleotide position 43. The tryptophan at codon 15 is replaced by glycine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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