ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.854G>A (p.Arg285Gln)

gnomAD frequency: 0.00011  dbSNP: rs200039241
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000231296 SCV000284802 uncertain significance Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2023-12-16 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 285 of the CASR protein (p.Arg285Gln). This variant is present in population databases (rs200039241, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with CASR-related conditions. ClinVar contains an entry for this variant (Variation ID: 237773). 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. 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.
Eurofins Ntd Llc (ga) RCV000274163 SCV000337654 uncertain significance not provided 2015-11-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002408956 SCV002675505 likely benign Inborn genetic diseases; Nephrolithiasis/nephrocalcinosis 2022-08-10 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.
Fulgent Genetics, Fulgent Genetics RCV002494625 SCV002804012 uncertain significance Familial hypocalciuric hypercalcemia 1; Neonatal severe primary hyperparathyroidism; Epilepsy, idiopathic generalized, susceptibility to, 8; Autosomal dominant hypocalcemia 1 2021-12-24 criteria provided, single submitter clinical testing

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