ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.2356A>G (p.Ile786Val)

gnomAD frequency: 0.00007  dbSNP: rs371882068
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000809088 SCV000949228 uncertain significance Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2023-08-23 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 output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 653335). This variant has not been reported in the literature in individuals affected with CASR-related conditions. This variant is present in population databases (rs371882068, gnomAD 0.04%). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 786 of the CASR protein (p.Ile786Val).
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002268300 SCV002550430 uncertain significance not specified 2023-08-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002442708 SCV002734468 likely benign Inborn genetic diseases; Nephrolithiasis/nephrocalcinosis 2022-10-31 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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