ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.928_931del (p.Thr310fs)

dbSNP: rs1599276830
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000817590 SCV000958159 pathogenic Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2022-08-09 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with clinical features of episodic ataxia type 2 (PMID: 27066515). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 660404). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Thr310Phefs*5) 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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