ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.712G>A (p.Asp238Asn)

gnomAD frequency: 0.00002  dbSNP: rs373376842
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001238076 SCV001410871 uncertain significance Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2023-11-12 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 238 of the CASR protein (p.Asp238Asn). This variant is present in population databases (rs373376842, gnomAD 0.006%). 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: 963952). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The asparagine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Ambry Genetics RCV004034568 SCV002668351 uncertain significance Nephrolithiasis/nephrocalcinosis 2024-08-08 criteria provided, single submitter clinical testing The p.D238N variant (also known as c.712G>A), located in coding exon 3 of the CASR gene, results from a G to A substitution at nucleotide position 712. The aspartic acid at codon 238 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.
PreventionGenetics, part of Exact Sciences RCV004554852 SCV004106398 uncertain significance CASR-related disorder 2023-05-11 criteria provided, single submitter clinical testing The CASR c.712G>A variant is predicted to result in the amino acid substitution p.Asp238Asn. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0058% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/3-121980594-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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