ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.721del (p.Glu241fs)

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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 RCV003801422 SCV004594292 pathogenic Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2023-08-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu241Asnfs*16) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CASR-related conditions. For these reasons, this variant has been classified as Pathogenic.

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