Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000186731 | SCV000240298 | uncertain significance | not provided | 2021-05-14 | criteria provided, single submitter | clinical testing | Published functional studies using an E.coli-based expression system suggest that this variant results in decreased expression; however additional studies are needed to validate the functional effect of this variant in vivo (Coughlin et al., 2019); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 30043187) |
Labcorp Genetics |
RCV000641168 | SCV000762805 | likely benign | Pyridoxine-dependent epilepsy | 2024-12-22 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000641168 | SCV001523907 | uncertain significance | Pyridoxine-dependent epilepsy | 2019-07-11 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
New York Genome Center | RCV000641168 | SCV001761022 | uncertain significance | Pyridoxine-dependent epilepsy | 2020-06-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002415800 | SCV002718774 | uncertain significance | Inborn genetic diseases | 2021-06-08 | criteria provided, single submitter | clinical testing | The c.203C>A (p.T68N) alteration is located in exon 2 (coding exon 2) of the ALDH7A1 gene. This alteration results from a C to A substitution at nucleotide position 203, causing the threonine (T) at amino acid position 68 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Revvity Omics, |
RCV000641168 | SCV003823153 | uncertain significance | Pyridoxine-dependent epilepsy | 2019-11-21 | criteria provided, single submitter | clinical testing | |
Clinical Molecular Genetics Laboratory, |
RCV000678776 | SCV000804955 | uncertain significance | Intractable seizure | 2017-02-10 | no assertion criteria provided | clinical testing |