ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.1824G>C (p.Trp608Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002603107 SCV003497177 uncertain significance Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2022-02-23 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tryptophan, which is neutral and slightly polar, with cysteine, which is neutral and slightly polar, at codon 608 of the CASR protein (p.Trp608Cys).
Ambry Genetics RCV004068928 SCV005035224 uncertain significance Nephrolithiasis/nephrocalcinosis 2023-03-22 criteria provided, single submitter clinical testing The p.W608C variant (also known as c.1824G>C), located in coding exon 6 of the CASR gene, results from a G to C substitution at nucleotide position 1824. The tryptophan at codon 608 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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