Submissions for variant NM_001367624.2(ZNF469):c.9676C>A (p.His3226Asn)

gnomAD frequency: 0.00081  dbSNP: rs867530230

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000308943	SCV000399434	uncertain significance	Brittle cornea syndrome 1	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001837823	SCV000576573	uncertain significance	not provided	2022-11-29	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function
Invitae	RCV001837823	SCV002358519	likely benign	not provided	2024-01-25	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002379202	SCV002694931	likely benign	Cardiovascular phenotype	2022-07-07	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	RCV003957655	SCV004770492	likely benign	ZNF469-related disorder	2022-09-06	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).