Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002855001 | SCV003634210 | uncertain significance | Inborn genetic diseases | 2022-06-03 | criteria provided, single submitter | clinical testing | The c.146T>A (p.L49H) alteration is located in exon 4 (coding exon 2) of the GABRA1 gene. This alteration results from a T to A substitution at nucleotide position 146, causing the leucine (L) at amino acid position 49 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Uskudar University, |
RCV002855001 | SCV004174132 | pathogenic | Inborn genetic diseases | 2023-02-18 | criteria provided, single submitter | research |