Submissions for variant NM_001367624.2(ZNF469):c.1609G>A (p.Val537Met)

gnomAD frequency: 0.00172  dbSNP: rs184458982

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000488174	SCV000491492	likely benign	not provided	2020-12-18	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 29228253)
CeGaT Center for Human Genetics Tuebingen	RCV000488174	SCV000575064	likely benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	ZNF469: BP4
Eurofins Ntd Llc (ga)	RCV000488174	SCV000703606	uncertain significance	not provided	2016-12-13	criteria provided, single submitter	clinical testing
Invitae	RCV000488174	SCV002475552	likely benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002278643	SCV002565283	likely benign	Ehlers-Danlos syndrome	2021-08-13	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002402101	SCV002706461	benign	Cardiovascular phenotype	2021-08-05	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Revvity Omics, Revvity	RCV003137993	SCV003821857	uncertain significance	Brittle cornea syndrome 1	2022-06-21	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003902458	SCV004723391	uncertain significance	ZNF469-related disorder	2023-12-09	criteria provided, single submitter	clinical testing	The ZNF469 c.1609G>A variant is predicted to result in the amino acid substitution p.Val537Met. This variant was reported in individuals with keratoconus and corneal dystrophy (Lucas et al. 2017. PubMed ID: 29228253; Li et al. 2021. PubMed ID: 33816482). This variant is reported in 0.27% of alleles in individuals of European (Non-Finnish) descent in gnomAD. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000488174	SCV001808486	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000488174	SCV001967295	likely benign	not provided		no assertion criteria provided	clinical testing