ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.186-1G>A

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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 RCV003056245 SCV003346966 pathogenic Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2023-11-24 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 2 of the CASR gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and 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). Disruption of this splice site has been observed in individual(s) with CASR-related conditions (PMID: 11668634). ClinVar contains an entry for this variant (Variation ID: 2133259). Studies have shown that disruption of this splice site alters mRNA splicing and is expected to lead to the loss of protein expression (PMID: 11668634). For these reasons, this variant has been classified as Pathogenic.

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