ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.5408dup (p.Asn1803fs)

dbSNP: rs2144622488
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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 RCV001936104 SCV002201137 pathogenic Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2021-11-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with CACNA1A-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asn1804Lysfs*12) in the CACNA1A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CACNA1A are known to be pathogenic (PMID: 10371528, 19486177, 25735478, 27250579).

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