Submissions for variant NM_001367624.2(ZNF469):c.2803G>A (p.Glu935Lys)

gnomAD frequency: 0.00222  dbSNP: rs117995699

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000336939	SCV000399303	likely benign	Brittle cornea syndrome 1	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001690065	SCV001907814	benign	not provided	2018-06-20	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 25564447, 28484309)
Invitae	RCV001690065	SCV002381240	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000336939	SCV002514266	benign	Brittle cornea syndrome 1	2021-12-05	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002278445	SCV002565314	likely benign	Ehlers-Danlos syndrome	2021-10-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002436168	SCV002745787	benign	Cardiovascular phenotype	2019-03-15	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.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	RCV000336939	SCV003920639	benign	Brittle cornea syndrome 1	2022-12-09	criteria provided, single submitter	clinical testing	This variant is present in the Genome Aggregation Database (Highest reported MAF: 3.2% [374/11666], and in 12 total homozygotes; https://gnomad.broadinstitute.org/variant/16-88496681-G-A?dataset=gnomad_r2_1). This variant is also present in ClinVar, with several laboratories classifying it as benign or likely benign (Variation ID: 320891). Evolutionary conservation and computational prediction tools suggest that this variant may not impact the protein. In summary, this variant is classified as benign.