ClinVar Miner

Submissions for variant NM_013266.4(CTNNA3):c.2588del (p.Lys863fs)

dbSNP: rs730880073
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002516352 SCV002940007 uncertain significance Arrhythmogenic right ventricular dysplasia 13 2022-07-21 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. ClinVar contains an entry for this variant (Variation ID: 180313). This variant has not been reported in the literature in individuals affected with CTNNA3-related conditions. This variant is present in population databases (rs730880073, gnomAD 0.02%). This sequence change creates a premature translational stop signal (p.Lys863Serfs*24) in the CTNNA3 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 33 amino acid(s) of the CTNNA3 protein.
Blueprint Genetics RCV000157162 SCV000206885 uncertain significance Left ventricular noncompaction cardiomyopathy 2014-07-10 no assertion criteria provided clinical testing

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