Submissions for variant NM_001367624.2(ZNF469):c.751C>A (p.Pro251Thr)

gnomAD frequency: 0.00166  dbSNP: rs540655479

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001720029	SCV000517208	likely benign	not provided	2021-06-25	criteria provided, single submitter	clinical testing
Invitae	RCV001720029	SCV002495461	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002244876	SCV002514242	benign	Brittle cornea syndrome 1	2021-12-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002392966	SCV002672656	uncertain significance	Cardiovascular phenotype	2021-08-09	criteria provided, single submitter	clinical testing	The c.751C>A (p.P251T) alteration is located in exon 1 (coding exon 1) of the ZNF469 gene. This alteration results from a C to A substitution at nucleotide position 751, causing the proline (P) at amino acid position 251 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics	RCV002244876	SCV002807847	likely benign	Brittle cornea syndrome 1	2022-01-14	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003959886	SCV004775751	likely benign	ZNF469-related disorder	2022-01-18	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).