ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.373A>G (p.Ile125Val)

gnomAD frequency: 0.00144  dbSNP: rs117295656
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000116312 SCV000150230 benign not specified 2018-11-19 criteria provided, single submitter clinical testing
GeneDx RCV000116312 SCV000166952 benign not specified 2012-06-06 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga) RCV000116312 SCV000230160 benign not specified 2015-01-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000204650 SCV000260348 benign Pyridoxine-dependent epilepsy 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000204650 SCV000452313 benign Pyridoxine-dependent epilepsy 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Athena Diagnostics RCV000116312 SCV000612313 benign not specified 2020-07-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002316291 SCV000849759 benign Inborn genetic diseases 2016-09-01 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV000204650 SCV002797222 likely benign Pyridoxine-dependent epilepsy 2022-04-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000204650 SCV004049849 benign Pyridoxine-dependent epilepsy 2023-04-11 criteria provided, single submitter clinical testing

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