ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.9040G>A (p.Gly3014Arg)

gnomAD frequency: 0.00137  dbSNP: rs201438224
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000996371 SCV001151056 likely benign not provided 2018-10-01 criteria provided, single submitter clinical testing
GeneDx RCV000996371 SCV001792442 likely benign not provided 2019-08-15 criteria provided, single submitter clinical testing
Invitae RCV000996371 SCV002340989 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002445150 SCV002682357 likely benign Cardiovascular phenotype 2019-08-14 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
PreventionGenetics, part of Exact Sciences RCV003936263 SCV004764149 likely benign ZNF469-related condition 2023-06-06 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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