ClinVar Miner

Submissions for variant NM_013266.4(CTNNA3):c.2573T>C (p.Leu858Ser)

gnomAD frequency: 0.00028  dbSNP: rs41313840
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001087086 SCV001006273 likely benign Arrhythmogenic right ventricular dysplasia 13 2024-12-15 criteria provided, single submitter clinical testing
GeneDx RCV000865327 SCV002007023 uncertain significance not provided 2024-06-10 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Variants in candidate genes are classified as variants of uncertain significance in accordance with ACMG guidelines (PMID: 25741868); This variant is associated with the following publications: (PMID: 31847883, 30975432)
Blueprint Genetics RCV000143877 SCV000188746 uncertain significance Primary dilated cardiomyopathy 2014-02-05 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004754311 SCV005363791 likely benign CTNNA3-related disorder 2024-06-27 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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