ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.7140A>G (p.Pro2380=)

gnomAD frequency: 0.00001  dbSNP: rs1396219207
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000604786 SCV000721642 likely benign not specified 2017-08-01 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002063975 SCV002438891 likely benign not provided 2023-12-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV004601219 SCV005102325 likely benign Cardiovascular phenotype 2024-03-21 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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