Submissions for variant NM_001080.3(ALDH5A1):c.545C>T (p.Pro182Leu)

gnomAD frequency: 0.02518  dbSNP: rs3765310

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000116308	SCV000342686	benign	not specified	2016-06-10	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000280693	SCV000461815	benign	Succinate-semialdehyde dehydrogenase deficiency	2018-03-06	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000280693	SCV000632004	benign	Succinate-semialdehyde dehydrogenase deficiency	2025-02-04	criteria provided, single submitter	clinical testing
GeneDx	RCV001723676	SCV001950953	benign	not provided	2018-07-17	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 12208142, 27056292, 19164088)
Genetic Services Laboratory, University of Chicago	RCV000116308	SCV000150226	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.
PreventionGenetics, part of Exact Sciences	RCV003975004	SCV004798975	benign	ALDH5A1-related disorder	2020-01-07	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).