ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.2777A>G (p.Gln926Arg)

gnomAD frequency: 0.00012  dbSNP: rs200263975
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000225899 SCV000284792 likely benign Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2023-12-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV004018974 SCV001177524 likely benign Nephrolithiasis/nephrocalcinosis 2023-02-16 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Athena Diagnostics RCV000054620 SCV001477109 likely benign not provided 2020-06-29 criteria provided, single submitter clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV000054620 SCV002009215 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000054620 SCV002563787 uncertain significance not provided 2018-11-01 criteria provided, single submitter clinical testing
Martin Pollak Laboratory, Beth Israel Deaconess Medical Center RCV000054620 SCV000077310 unknown not provided no assertion criteria provided not provided Converted during submission to Uncertain significance.
PreventionGenetics, part of Exact Sciences RCV004554696 SCV004761025 uncertain significance CASR-related disorder 2024-09-10 no assertion criteria provided clinical testing The CASR c.2807A>G variant is predicted to result in the amino acid substitution p.Gln936Arg. This variant is also referred to as Q926R in the literature. It has been reported in individuals with familial hypocalciuric hypercalcemia and primary hyperparathyroidism (Rus et al. 2008. PubMed ID: 18796518; Frank-Raue et al. 2011. PubMed ID: 21521328; Russell and Antony. 2023. PubMed ID: 38021951) and one individual with primary hyperparathyroidism inherited the variant from an asymptomatic father (Frank-Raue et al. 2011. PubMed ID: 21521328). This variant was also reported in 43 individuals from the DiscovEHR cohort (individuals from the MyCode biobank) and the mean serum calcium concentration was not significantly altered in these individuals (Dershem et al. 2020. PubMed ID: 32386559). In vitro experimental studies of this variant are inconclusive (Rus et al. 2008. PubMed ID: 18796518). This variant is reported in 0.021% of alleles in individuals of European (non-Finnish) descent in a large population database and has been reported in ClinVar with conflicting interpretations including likely benign and a variant of uncertain significance (https://www.ncbi.nlm.nih.gov/clinvar/variation/64433/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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