Submissions for variant NM_001367624.2(ZNF469):c.1615A>T (p.Ser539Cys)

gnomAD frequency: 0.00283  dbSNP: rs189476639

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000266161	SCV000399276	uncertain significance	Brittle cornea syndrome 1	2016-06-14	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000487545	SCV000575065	likely benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	ZNF469: BP4, BS2
GeneDx	RCV000487545	SCV000730846	likely benign	not provided	2021-06-02	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 24895405)
Eurofins Ntd Llc (ga)	RCV000487545	SCV000855614	uncertain significance	not provided	2017-07-19	criteria provided, single submitter	clinical testing
Invitae	RCV000487545	SCV002445895	likely benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002278436	SCV002565285	likely benign	Ehlers-Danlos syndrome	2022-04-20	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002392874	SCV002703184	benign	Cardiovascular phenotype	2019-02-16	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	RCV000266161	SCV003920635	uncertain significance	Brittle cornea syndrome 1	2022-04-26	criteria provided, single submitter	clinical testing	This variant has not been reported in the literature but is present in 0.6% (96/15280) of Latino alleles, including 1 homozygote, in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/16-88429085-A-T?dataset=gnomad_r3). This variant is also present in ClinVar, with multiple laboratories classifying it as likely benign (Variation ID: 320869). Evolutionary conservation and computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant suggests that this variant does not cause disease but requires further evidence. Therefore, this variant is classified as likely benign.
PreventionGenetics, part of Exact Sciences	RCV003972370	SCV004791029	likely benign	ZNF469-related disorder	2022-09-03	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).
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000487545	SCV001808708	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000487545	SCV001966993	likely benign	not provided		no assertion criteria provided	clinical testing