ClinVar Miner

Submissions for variant NM_001080.3(ALDH5A1):c.1421A>C (p.Asp474Ala)

gnomAD frequency: 0.00060  dbSNP: rs142482046
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224179 SCV000281246 uncertain significance not provided 2016-05-19 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Invitae RCV001085262 SCV000631991 likely benign Succinate-semialdehyde dehydrogenase deficiency 2024-01-19 criteria provided, single submitter clinical testing
GeneDx RCV000224179 SCV001818886 uncertain significance not provided 2023-04-27 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 25553455, 25617482)
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000678775 SCV000804954 uncertain significance EEG abnormality 2016-09-02 no assertion criteria provided clinical testing

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