ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.8860T>C (p.Trp2954Arg)

gnomAD frequency: 0.00061  dbSNP: rs557063759
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001664987 SCV001873727 uncertain significance not provided 2023-06-09 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Ambry Genetics RCV002370253 SCV002687249 benign Cardiovascular phenotype 2020-11-18 criteria provided, single submitter clinical testing This alteration is classified as 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001664987 SCV003286557 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing

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