ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.553C>T (p.Arg185Ter) (rs104893707)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001040159 SCV001203720 pathogenic Familial hypocalciuric hypercalcemia; Hypocalcemia, autosomal dominant 1 2019-01-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg185*) in the CASR gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed along with a second variant in the same CASR gene in an individual affected with neonatal severe hyperparathyroidism (PMID: 9253359). ClinVar contains an entry for this variant (Variation ID: 8345). Loss-of-function variants in CASR are known to be pathogenic (PMID: 22422767). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000008850 SCV000029060 pathogenic Neonatal severe hyperparathyroidism 1997-08-01 no assertion criteria provided literature only

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