ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.2767C>G (p.Pro923Ala)

gnomAD frequency: 0.00001  dbSNP: rs201517907
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000692774 SCV000820617 uncertain significance Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2023-10-28 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 923 of the CASR protein (p.Pro923Ala). This variant is present in population databases (rs201517907, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with CASR-related conditions. ClinVar contains an entry for this variant (Variation ID: 571590). 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. 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.
Mendelics RCV000987313 SCV001136577 likely benign Familial hypocalciuric hypercalcemia 1 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000998129 SCV001154030 uncertain significance not provided 2017-01-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002440460 SCV002752277 uncertain significance Inborn genetic diseases; Nephrolithiasis/nephrocalcinosis 2021-09-27 criteria provided, single submitter clinical testing The p.P923A variant (also known as c.2767C>G), located in coding exon 6 of the CASR gene, results from a C to G substitution at nucleotide position 2767. The proline at codon 923 is replaced by alanine, an amino acid with highly similar properties. This amino acid position is 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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