Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000724449 | SCV000231000 | uncertain significance | not provided | 2015-01-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000724449 | SCV000240329 | uncertain significance | not provided | 2024-04-25 | criteria provided, single submitter | clinical testing | In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Illumina Laboratory Services, |
RCV001156822 | SCV001318351 | 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 |
RCV001156822 | SCV002470097 | likely benign | Pyridoxine-dependent epilepsy | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001156822 | SCV004239000 | uncertain significance | Pyridoxine-dependent epilepsy | 2023-11-02 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV004586599 | SCV005077520 | likely benign | not specified | 2024-04-04 | criteria provided, single submitter | clinical testing | Variant summary: ALDH7A1 c.494G>C (p.Gly165Ala) results in a non-conservative amino acid change located in the Aldehyde dehydrogenase domain (IPR015590) of the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.0004 in 251418 control chromosomes, predominantly at a frequency of 0.0032 within the South Asian subpopulation in the gnomAD database. The observed variant frequency within South Asian control individuals in the gnomAD database is approximately 1.8 fold of the estimated maximal expected allele frequency for a pathogenic variant in ALDH7A1 causing Pyridoxine-Dependent Epilepsy phenotype (0.0018), strongly suggesting that the variant is a benign polymorphism found primarily in populations of South Asian origin. To our knowledge, no occurrence of c.494G>C in individuals affected with Pyridoxine-Dependent Epilepsy and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 197721). Based on the evidence outlined above, the variant was classified as likely benign. |