Submissions for variant NM_001080.3(ALDH5A1):c.862A>G (p.Thr288Ala)

gnomAD frequency: 0.00010  dbSNP: rs373320785

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000822136	SCV000962925	likely benign	Succinate-semialdehyde dehydrogenase deficiency	2024-01-22	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000822136	SCV001317195	uncertain significance	Succinate-semialdehyde dehydrogenase deficiency	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx	RCV001529714	SCV004014472	uncertain significance	not provided	2023-01-13	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille	RCV001252141	SCV001427891	likely benign	Intellectual disability	2019-01-01	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529714	SCV001743640	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001529714	SCV001974745	uncertain significance	not provided		no assertion criteria provided	clinical testing