Submissions for variant NM_001182.5(ALDH7A1):c.1567A>G (p.Thr523Ala)

gnomAD frequency: 0.00449  dbSNP: rs61757684

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000175287	SCV000226753	likely benign	not specified	2014-08-18	criteria provided, single submitter	clinical testing
GeneDx	RCV000175287	SCV000240285	benign	not specified	2016-08-03	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
PreventionGenetics, part of Exact Sciences	RCV000175287	SCV000306969	likely benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000387206	SCV000452302	likely benign	Pyridoxine-dependent epilepsy	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000441298	SCV000511679	likely benign	not provided	2017-01-09	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Invitae	RCV000387206	SCV000561547	benign	Pyridoxine-dependent epilepsy	2024-02-01	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000175287	SCV000593098	benign	not specified	2015-08-19	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000387206	SCV000743968	likely benign	Pyridoxine-dependent epilepsy	2015-03-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312713	SCV000847193	benign	Inborn genetic diseases	2016-07-13	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.
Athena Diagnostics Inc	RCV000441298	SCV001142979	likely benign	not provided	2019-04-25	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000441298	SCV001249425	benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	ALDH7A1: PP3, BS1, BS2
Genome-Nilou Lab	RCV000387206	SCV004049962	benign	Pyridoxine-dependent epilepsy	2023-04-11	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000387206	SCV000734373	likely benign	Pyridoxine-dependent epilepsy		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000441298	SCV001920753	likely benign	not provided		no assertion criteria provided	clinical testing