Submissions for variant NM_001182.5(ALDH7A1):c.1234A>G (p.Thr412Ala)

gnomAD frequency: 0.00250  dbSNP: rs2306618

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000116309	SCV000166961	benign	not specified	2012-02-24	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.
Eurofins Ntd Llc (ga)	RCV000116309	SCV000226070	benign	not specified	2014-06-05	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000287846	SCV000452306	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae	RCV000287846	SCV000561544	benign	Pyridoxine-dependent epilepsy	2024-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002313852	SCV000849001	benign	Inborn genetic diseases	2016-04-05	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.
Fulgent Genetics, Fulgent Genetics	RCV000287846	SCV002802419	likely benign	Pyridoxine-dependent epilepsy	2022-01-21	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000287846	SCV004050624	benign	Pyridoxine-dependent epilepsy	2023-04-11	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000116309	SCV000150227	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.