ClinVar Miner

Submissions for variant NM_013266.4(CTNNA3):c.1048G>C (p.Ala350Pro)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004615901 SCV005103563 uncertain significance not specified 2024-03-16 criteria provided, single submitter clinical testing The p.A350P variant (also known as c.1048G>C) is located in coding exon 7 of the CTNNA3 gene. The alanine at codon 350 is replaced by proline, an amino acid with highly similar properties. This change occurs in the first base pair of coding exon 7. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005358124 SCV005912685 uncertain significance Congenital heart disease 2022-06-22 criteria provided, single submitter research

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