ClinVar Miner

Submissions for variant NM_013266.4(CTNNA3):c.40C>T (p.Gln14Ter)

dbSNP: rs1589530547
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000801150 SCV000940916 uncertain significance Arrhythmogenic right ventricular dysplasia 13 2018-11-15 criteria provided, single submitter clinical testing 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. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in CTNNA3 cause disease. 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 creates a premature translational stop signal (p.Gln14*) in the CTNNA3 gene. It is expected to result in an absent or disrupted protein product.

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