Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
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, |
RCV000054620 | SCV002009215 | uncertain significance | not provided | 2021-11-03 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000054620 | SCV002563787 | uncertain significance | not provided | 2018-11-01 | criteria provided, single submitter | clinical testing | |
Martin Pollak Laboratory, |
RCV000054620 | SCV000077310 | unknown | not provided | no assertion criteria provided | not provided | Converted during submission to Uncertain significance. | |
Prevention |
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. |