ClinVar Miner

Submissions for variant NM_013266.4(CTNNA3):c.2265+1G>C

dbSNP: rs1589220613
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000824310 SCV000965203 uncertain significance Arrhythmogenic right ventricular dysplasia 13 2018-09-08 criteria provided, single submitter clinical testing The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in CTNNA3 cause disease. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with CTNNA3-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 16 of the CTNNA3 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.

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