ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.944G>A (p.Gly315Asp)

dbSNP: rs1389231880
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002231746 SCV000638088 uncertain significance Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2023-05-10 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with CASR-related conditions. 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 463961). This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 315 of the CASR protein (p.Gly315Asp).
Ambry Genetics RCV002377066 SCV002684650 uncertain significance Inborn genetic diseases; Nephrolithiasis/nephrocalcinosis 2020-06-22 criteria provided, single submitter clinical testing The p.G315D variant (also known as c.944G>A), located in coding exon 3 of the CASR gene, results from a G to A substitution at nucleotide position 944. The glycine at codon 315 is replaced by aspartic acid, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. 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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