ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.733C>T (p.Gln245Ter)

dbSNP: rs1553766768
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002234007 SCV000760997 pathogenic Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2022-01-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln245*) 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: 22422767). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 532576). This variant has not been reported in the literature in individuals affected with CASR-related conditions. This variant is not present in population databases (gnomAD no frequency).

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