ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.6155del (p.Pro2052fs)

dbSNP: rs1158454977
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002265397 SCV002547081 likely pathogenic not provided 2022-01-06 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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; Reported as 6404 del C due to the use of alternate nomenclature in two members of one family with episodic ataxia (Jen et al., 2004); This variant is associated with the following publications: (PMID: 14718690)

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