ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.878G>A (p.Trp293Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003802771 SCV004591589 pathogenic Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2022-11-23 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp293*) in the CASR gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CASR are known to be pathogenic (PMID: 11807402, 14985373, 22422767). For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with hypercalcemia (PMID: 32386559).

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