ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.2564A>G (p.Asn855Ser)

dbSNP: rs2074940832
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001215543 SCV001387294 uncertain significance Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2024-01-31 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 855 of the CASR protein (p.Asn855Ser). This variant is not present in population databases (gnomAD no frequency). 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: 945017). 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. 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 RCV002429917 SCV002744423 uncertain significance Inborn genetic diseases; Nephrolithiasis/nephrocalcinosis 2022-02-08 criteria provided, single submitter clinical testing The p.N855S variant (also known as c.2564A>G), located in coding exon 6 of the CASR gene, results from an A to G substitution at nucleotide position 2564. The asparagine at codon 855 is replaced by serine, 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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