ClinVar Miner

Submissions for variant NM_001903.5(CTNNA1):c.2016C>A (p.Ile672=)

gnomAD frequency: 0.00001  dbSNP: rs1363433371
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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 RCV000869021 SCV001010413 likely benign not provided 2025-01-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002416034 SCV002722973 likely benign Hereditary cancer-predisposing syndrome 2020-11-16 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.
GeneDx RCV000869021 SCV005325423 uncertain significance not provided 2023-10-03 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge
Myriad Genetics, Inc. RCV005249193 SCV005896889 benign Hereditary diffuse gastric adenocarcinoma 2024-10-14 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.

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