ClinVar Miner

Submissions for variant NM_001080.3(ALDH5A1):c.1211C>G (p.Ala404Gly)

gnomAD frequency: 0.00006  dbSNP: rs139719918
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000542929 SCV000631983 likely benign Succinate-semialdehyde dehydrogenase deficiency 2024-01-27 criteria provided, single submitter clinical testing
GeneDx RCV001577126 SCV001804457 uncertain significance not provided 2020-12-21 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 25553455)
Mayo Clinic Laboratories, Mayo Clinic RCV001577126 SCV002542159 uncertain significance not provided 2021-07-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002527707 SCV003604221 uncertain significance Inborn genetic diseases 2021-04-27 criteria provided, single submitter clinical testing The c.1211C>G (p.A404G) alteration is located in exon 8 (coding exon 8) of the ALDH5A1 gene. This alteration results from a C to G substitution at nucleotide position 1211, causing the alanine (A) at amino acid position 404 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Diagnostic Laboratory, Strasbourg University Hospital RCV001249504 SCV001423494 likely pathogenic Intellectual disability 2018-12-01 no assertion criteria provided clinical testing

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