ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.554del (p.Arg185fs)

dbSNP: rs193922442
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000029453 SCV000052103 likely pathogenic Familial hypocalciuric hypercalcemia 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.
Athena Diagnostics RCV002472936 SCV002771680 pathogenic not provided 2022-08-09 criteria provided, single submitter clinical testing This variant is expected to result in the loss of a functional protein. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). This variant has been identified in at least one individual tested at Athena Diagnostics with clinical features associated with this gene.
Labcorp Genetics (formerly Invitae), Labcorp RCV002513240 SCV003001424 pathogenic Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2022-11-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg185Glnfs*72) 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. ClinVar contains an entry for this variant (Variation ID: 35801). For these reasons, this variant has been classified as Pathogenic.

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