ClinVar Miner

Submissions for variant NM_001903.5(CTNNA1):c.1611C>T (p.Gly537=)

dbSNP: rs1580854872
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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 RCV000941822 SCV001087722 likely benign not provided 2024-02-11 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV005249386 SCV005895619 benign Hereditary diffuse gastric adenocarcinoma 2024-10-11 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.
Ambry Genetics RCV005318563 SCV005986865 likely benign Hereditary cancer-predisposing syndrome 2025-02-08 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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