ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.3132G>A (p.Val1044=)

gnomAD frequency: 0.00001  dbSNP: rs755277801
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000400310 SCV000336712 uncertain significance not provided 2015-11-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001084533 SCV000561351 likely benign Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2025-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV004021153 SCV001180031 likely benign Nephrolithiasis/nephrocalcinosis 2019-10-18 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.

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