ClinVar Miner

Submissions for variant NM_013266.4(CTNNA3):c.1192G>A (p.Val398Ile)

gnomAD frequency: 0.00028  dbSNP: rs145043626
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001482702 SCV001687076 likely benign Arrhythmogenic right ventricular dysplasia 13 2024-10-16 criteria provided, single submitter clinical testing
GeneDx RCV001751772 SCV002005575 likely benign not provided 2020-12-24 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Ambry Genetics RCV004037233 SCV004852194 uncertain significance not specified 2023-12-15 criteria provided, single submitter clinical testing The c.1192G>A (p.V398I) alteration is located in exon 9 (coding exon 8) of the CTNNA3 gene. This alteration results from a G to A substitution at nucleotide position 1192, causing the valine (V) at amino acid position 398 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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