ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.6181_6184del (p.Asn2061fs)

dbSNP: rs2144524434
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003773527 SCV004590961 pathogenic Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-02-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn2062Leufs*60) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CACNA1A-related conditions. ClinVar contains an entry for this variant (Variation ID: 1526277). For these reasons, this variant has been classified as Pathogenic.
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV002052295 SCV002318932 pathogenic Developmental and epileptic encephalopathy, 42 no assertion criteria provided clinical testing

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