ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.7838G>C (p.Arg2613Pro)

dbSNP: rs370285147
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000996369 SCV001151054 uncertain significance not provided 2019-01-01 criteria provided, single submitter clinical testing
GeneDx RCV000996369 SCV001819959 uncertain significance not provided 2024-05-14 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function
Ambry Genetics RCV004601324 SCV005102298 likely benign Cardiovascular phenotype 2024-04-24 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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