ClinVar Miner

Submissions for variant NM_013266.4(CTNNA3):c.452T>G (p.Val151Gly)

gnomAD frequency: 0.00003  dbSNP: rs756167695
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000527206 SCV000654847 uncertain significance Arrhythmogenic right ventricular dysplasia 13 2022-07-06 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 474824). This variant has not been reported in the literature in individuals affected with CTNNA3-related conditions. This variant is present in population databases (rs756167695, gnomAD 0.03%). This sequence change replaces valine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 151 of the CTNNA3 protein (p.Val151Gly).
Ambry Genetics RCV002525312 SCV003705425 uncertain significance Inborn genetic diseases 2021-10-27 criteria provided, single submitter clinical testing The c.452T>G (p.V151G) alteration is located in exon 4 (coding exon 3) of the CTNNA3 gene. This alteration results from a T to G substitution at nucleotide position 452, causing the valine (V) at amino acid position 151 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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