ClinVar Miner

Submissions for variant NM_001080.3(ALDH5A1):c.1198G>A (p.Val400Ile)

gnomAD frequency: 0.00105  dbSNP: rs147358733
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000309054 SCV000340228 uncertain significance not provided 2018-03-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001079528 SCV000756320 likely benign Succinate-semialdehyde dehydrogenase deficiency 2025-01-24 criteria provided, single submitter clinical testing
New York Genome Center RCV001079528 SCV001441350 uncertain significance Succinate-semialdehyde dehydrogenase deficiency 2022-01-28 criteria provided, single submitter clinical testing
GeneDx RCV000309054 SCV001770207 likely benign not provided 2021-03-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003957465 SCV004774736 likely benign ALDH5A1-related disorder 2022-09-07 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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