ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.2303G>T (p.Gly768Val) (rs201858689)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001238616 SCV001411439 uncertain significance Familial hypocalciuric hypercalcemia; Hypocalcemia, autosomal dominant 1 2019-10-29 criteria provided, single submitter clinical testing This sequence change replaces glycine with valine at codon 768 of the CASR protein (p.Gly768Val). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and valine. This variant is present in population databases (rs201858689, ExAC 0.03%). This variant has been observed to segregate with CASR-related disease in a family (PMID: 24854525), and has been reported in an individual affected with neonatal severe primary hyperparathyroidism (NSHPT) (PMID: 22422767). ClinVar contains an entry for this variant (Variation ID: 633483). This variant has been reported to have insufficient data to determine the effect on CASR protein function (PMID: 24854525). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000781967 SCV000920421 pathogenic Neonatal severe hyperparathyroidism 2007-02-01 no assertion criteria provided clinical testing

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