ClinVar Miner

Submissions for variant NM_001080.3(ALDH5A1):c.13A>G (p.Ile5Val)

gnomAD frequency: 0.00096  dbSNP: rs200398000
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000525342 SCV000631990 likely benign Succinate-semialdehyde dehydrogenase deficiency 2020-11-10 criteria provided, single submitter clinical testing
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000678774 SCV000804953 uncertain significance Seizure 2017-04-04 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000525342 SCV001317094 likely benign Succinate-semialdehyde dehydrogenase deficiency 2018-01-13 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx RCV001591209 SCV001824832 likely benign not provided 2021-01-15 criteria provided, single submitter clinical testing

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