ClinVar Miner

Submissions for variant NM_001378969.1(KCND3):c.1519-5C>T

gnomAD frequency: 0.00002  dbSNP: rs376408039
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001488862 SCV001693387 likely benign Spinocerebellar ataxia type 19/22 2021-03-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002395385 SCV002705280 uncertain significance Cardiovascular phenotype 2023-10-30 criteria provided, single submitter clinical testing The c.1519-5C>T intronic variant results from a C to T substitution 5 nucleotides upstream from coding exon 6 in the KCND3 gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Based on data from gnomAD, the frequency for this variant is above the maximum credible frequency for a cardiac-causing variant in this gene based on internally established thresholds (Karczewski et al. Nature. 2020 May;581(7809):434-443; Whiffin et al. Genet Med. 2017 10;19:1151-1158). Based on the supporting evidence, the association of this alteration with KCND3-related spinocerebellar ataxia syndrome is unknown; however, the association of this alteration with Brugada syndrome is unlikely.

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