ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.1847_1850del (p.Leu616fs)

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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 RCV003806348 SCV004592802 pathogenic Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2023-04-02 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.Leu616Profs*10) in the CASR gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 463 amino acid(s) of the CASR protein. This variant has not been reported in the literature in individuals affected with CASR-related conditions. This variant disrupts a region of the CASR protein in which other variant(s) (p.Trp718*) have been determined to be pathogenic (PMID: 9395465, 18796518). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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