Submissions for variant NM_001182.5(ALDH7A1):c.960C>T (p.Phe320=)

gnomAD frequency: 0.00014  dbSNP: rs114516357

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001698221	SCV000531399	likely benign	not provided	2020-12-29	criteria provided, single submitter	clinical testing
Invitae	RCV000532418	SCV000640333	likely benign	Pyridoxine-dependent epilepsy	2024-01-20	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002379361	SCV002695704	likely benign	Inborn genetic diseases	2019-10-23	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.
Genome-Nilou Lab	RCV000532418	SCV004049024	likely benign	Pyridoxine-dependent epilepsy	2023-04-11	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003959971	SCV004775633	likely benign	ALDH7A1-related disorder	2020-01-13	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).