ClinVar Miner

Submissions for variant NM_015215.4(CAMTA1):c.4780C>T (p.Arg1594Ter)

dbSNP: rs1553280067
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000497424 SCV000589866 pathogenic not provided 2023-09-27 criteria provided, single submitter clinical testing Identified in a patient with CAMTA1-related features in published literature (PMID: 33131045); Nonsense 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; Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 33131045)
Fulgent Genetics, Fulgent Genetics RCV002496909 SCV002812622 likely pathogenic Cerebellar dysfunction with variable cognitive and behavioral abnormalities 2021-08-25 criteria provided, single submitter clinical testing

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