Submissions for variant NM_000388.4(CASR):c.71A>G (p.Gln24Arg)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV003786786	SCV004573323	uncertain significance	Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1	2023-06-02	criteria provided, single submitter	clinical testing	This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 24 of the CASR protein (p.Gln24Arg). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with CASR-related conditions. This variant is not present in population databases (gnomAD no frequency).
Ambry Genetics	RCV004366548	SCV005035292	uncertain significance	Nephrolithiasis/nephrocalcinosis	2024-01-14	criteria provided, single submitter	clinical testing	The p.Q24R variant (also known as c.71A>G), located in coding exon 1 of the CASR gene, results from an A to G substitution at nucleotide position 71. The glutamine at codon 24 is replaced by arginine, an amino acid with highly similar 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.