ClinVar Miner

Submissions for variant NC_000003.11:g.(?_121980355)_(121981279_?)del

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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 RCV004582164 SCV005066286 pathogenic Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2023-07-07 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 4 of the CASR gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. 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.Arg172Gly) have been determined to be pathogenic (PMID: 20034274, 22422767, 23966241, 27434672). 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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