ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.1082+1G>A

dbSNP: rs1272886269
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000544536 SCV000656706 pathogenic Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2017-07-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in CACNA1A are known to be pathogenic (PMID: 10371528, 19486177, 25735478, 27250579). This variant has been reported to segregate with in a family with clinical features of CACNA1A-related disease (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 7 of the CACNA1A gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.

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