ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.471dup (p.Ala158fs)

dbSNP: rs1599289383
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008862 SCV001168667 pathogenic not provided 2022-04-06 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (gnomAD)
Invitae RCV003769415 SCV004604566 pathogenic Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-12-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala158Cysfs*33) 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: 817659). For these reasons, this variant has been classified as Pathogenic.

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