ClinVar Miner

Submissions for variant NM_013266.4(CTNNA3):c.232C>T (p.Gln78Ter)

gnomAD frequency: 0.00003  dbSNP: rs201306690
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000208496 SCV000263822 uncertain significance Primary familial hypertrophic cardiomyopathy 2015-09-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001853297 SCV002142452 uncertain significance Arrhythmogenic right ventricular dysplasia 13 2022-11-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln78*) in the CTNNA3 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in CTNNA3 cause disease. This variant is present in population databases (rs201306690, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with CTNNA3-related conditions. ClinVar contains an entry for this variant (Variation ID: 222536). 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.

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