Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Lupski Lab, |
RCV000210438 | SCV000266508 | uncertain significance | Parkinson disease | 2016-01-01 | criteria provided, single submitter | research | |
Ambry Genetics | RCV002517432 | SCV003681277 | uncertain significance | Inborn genetic diseases | 2022-07-08 | criteria provided, single submitter | clinical testing | The c.1774A>G (p.T592A) alteration is located in exon 8 (coding exon 6) of the TNR gene. This alteration results from a A to G substitution at nucleotide position 1774, causing the threonine (T) at amino acid position 592 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |