ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.1687T>C (p.Phe563Leu)

dbSNP: rs2074898883
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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 RCV001339819 SCV001533588 uncertain significance Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2020-10-11 criteria provided, single submitter clinical testing 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 tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with CASR-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces phenylalanine with leucine at codon 563 of the CASR protein (p.Phe563Leu). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and leucine.
Ambry Genetics RCV004035913 SCV002715331 uncertain significance Nephrolithiasis/nephrocalcinosis 2022-01-15 criteria provided, single submitter clinical testing The p.F563L variant (also known as c.1687T>C), located in coding exon 5 of the CASR gene, results from a T to C substitution at nucleotide position 1687. The phenylalanine at codon 563 is replaced by leucine, an amino acid with highly similar 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.
Athena Diagnostics RCV002473274 SCV002771696 uncertain significance not provided 2022-08-22 criteria provided, single submitter clinical testing

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