ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.186-1G>T (rs797044441)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000008845 SCV000550956 pathogenic Hypocalciuric hypercalcemia, familial, type 1 2016-12-04 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 2 of the CASR gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has been reported in individuals with hypocalciuric hypercalcemia (PMID: 11668634). For these reasons, this variant has been classified as Pathogenic. Donor and acceptor splice site variants are typically loss-of-function (PMID: 16199547), and loss-of-function variants in CASR are known to be pathogenic (PMID: 22422767). Experimental evidence shows that this variant results in increased exon 3 skipping and a CASR transcript lacking exon 3 would results in a frameshift followed by a premature truncation of CASR protein (PMID: 11668634).
Ambry Genetics RCV001013431 SCV001174014 pathogenic Inborn genetic diseases 2018-12-04 criteria provided, single submitter clinical testing Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity;Functionally-validated splicing mutation
OMIM RCV000008845 SCV000029055 pathogenic Hypocalciuric hypercalcemia, familial, type 1 2001-11-01 no assertion criteria provided literature only

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