ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.1439T>C (p.Ile480Thr)

dbSNP: rs886059849
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000274095 SCV000452303 uncertain significance 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000274095 SCV001203129 uncertain significance Pyridoxine-dependent epilepsy 2021-08-31 criteria provided, single submitter clinical testing
3billion RCV000274095 SCV003841417 uncertain significance Pyridoxine-dependent epilepsy 2023-02-23 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.87; 3Cnet: 0.93). Therefore, this variant is classified as VUS according to the recommendation of ACMG/AMP guideline.
Genome-Nilou Lab RCV000274095 SCV004050117 uncertain significance Pyridoxine-dependent epilepsy 2023-04-11 criteria provided, single submitter clinical testing
Center of Excellence for Medical Genomics, Chulalongkorn University RCV000274095 SCV002570020 likely pathogenic Pyridoxine-dependent epilepsy 2002-09-08 no assertion criteria provided research

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