ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.1739G>A (p.Ser580Asn)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004060730 SCV002713843 uncertain significance Nephrolithiasis/nephrocalcinosis 2022-06-04 criteria provided, single submitter clinical testing The p.S580N variant (also known as c.1739G>A), located in coding exon 6 of the CASR gene, results from a G to A substitution at nucleotide position 1739. The serine at codon 580 is replaced by asparagine, 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003774482 SCV004574238 uncertain significance Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2023-04-26 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 1779144). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 580 of the CASR protein (p.Ser580Asn).

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