ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.7321C>T (p.Pro2441Ser)

gnomAD frequency: 0.00032  dbSNP: rs546137802
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001565187 SCV001788487 uncertain significance not provided 2020-01-28 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Labcorp Genetics (formerly Invitae), Labcorp RCV001565187 SCV003292520 likely benign not provided 2025-01-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004995947 SCV005537905 likely benign Cardiovascular phenotype 2024-08-20 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.
PreventionGenetics, part of Exact Sciences RCV004731167 SCV005338657 likely benign ZNF469-related disorder 2024-07-02 no assertion criteria provided 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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