Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000186730 | SCV000240297 | uncertain significance | not provided | 2023-05-06 | 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 |
| Labcorp Genetics |
RCV001084645 | SCV000640317 | likely benign | Pyridoxine-dependent epilepsy | 2024-11-27 | criteria provided, single submitter | clinical testing | |
| Illumina Laboratory Services, |
RCV001084645 | SCV001315792 | uncertain significance | Pyridoxine-dependent epilepsy | 2017-04-28 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
| Ambry Genetics | RCV002415799 | SCV002719570 | uncertain significance | Inborn genetic diseases | 2017-07-18 | criteria provided, single submitter | clinical testing | The p.T67M variant (also known as c.200C>T), located in coding exon 2 of the ALDH7A1 gene, results from a C to T substitution at nucleotide position 200. The threonine at codon 67 is replaced by methionine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV004800325 | SCV005422233 | likely benign | not specified | 2024-10-22 | criteria provided, single submitter | clinical testing | Variant summary: ALDH7A1 c.200C>T (p.Thr67Met) results in a non-conservative amino acid change located in the Aldehyde dehydrogenase domain (IPR015590) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.00047 in 251340 control chromosomes, predominantly at a frequency of 0.0025 within the South Asian subpopulation in the gnomAD database, including 1 homozygote. The observed variant frequency within South Asian control individuals in the gnomAD database is approximately equal to the estimated maximal expected allele frequency for a pathogenic variant in ALDH7A1 causing Pyridoxine-Dependent Epilepsy phenotype (0.0018). To our knowledge, no occurrence of c.200C>T 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: 204834). Based on the evidence outlined above, the variant was classified as likely benign. |