ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.885C>T (p.Ala295=)

gnomAD frequency: 0.00026  dbSNP: rs147307274
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000290827 SCV000332230 uncertain significance not provided 2015-06-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001087362 SCV000761074 likely benign Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2024-09-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV004021076 SCV001179653 likely benign Nephrolithiasis/nephrocalcinosis 2024-01-16 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.
GeneDx RCV000290827 SCV005079011 uncertain significance not provided 2023-06-28 criteria provided, single submitter clinical testing In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 36315513)

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