ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.3079G>A (p.Val1027Ile)

gnomAD frequency: 0.00001  dbSNP: rs776184769
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000816419 SCV000956927 likely benign Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2023-07-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002319589 SCV002608703 uncertain significance Inborn genetic diseases; Nephrolithiasis/nephrocalcinosis 2021-06-19 criteria provided, single submitter clinical testing The p.V1027I variant (also known as c.3079G>A), located in coding exon 6 of the CASR gene, results from a G to A substitution at nucleotide position 3079. The valine at codon 1027 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is conserved. 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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