ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.3532del (p.Leu1178fs)

dbSNP: rs757953057
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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 RCV000798464 SCV000938082 pathogenic Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2018-08-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu1179Serfs*8) in the CACNA1A gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs757953057, ExAC 0.003%). This variant has not been reported in the literature in individuals with CACNA1A-related disease. Loss-of-function variants in CACNA1A are known to be pathogenic (PMID: 10371528, 19486177, 25735478, 27250579). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV004721610 SCV005328198 pathogenic not provided 2023-05-22 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; This variant is associated with the following publications: (PMID: 31440721)

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