ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.1663A>G (p.Ile555Val)

dbSNP: rs777646067
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001037938 SCV001201375 uncertain significance Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2021-08-17 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 555 of the CASR protein (p.Ile555Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine. This variant is present in population databases (rs777646067, ExAC 0.001%). This variant has been observed in an individual with a clinical suspicion of familial hypocalciuric hypercalcemia (PMID: 17698911). 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. 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.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002465826 SCV002760318 uncertain significance not specified 2024-02-06 criteria provided, single submitter clinical testing

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