ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.725G>T (p.Ser242Ile)

gnomAD frequency: 0.00135  dbSNP: rs536586591
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000282947 SCV000399259 uncertain significance Brittle cornea syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000761944 SCV000892171 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing ZNF469: BP4
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002278432 SCV002565398 uncertain significance Ehlers-Danlos syndrome 2022-04-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002379198 SCV002670272 likely benign Cardiovascular phenotype 2021-07-16 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.
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000761944 SCV001977709 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000761944 SCV001979937 likely benign not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004751459 SCV005345733 likely benign ZNF469-related disorder 2024-07-01 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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