Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV004670712 | SCV005166297 | uncertain significance | not specified | 2024-06-18 | criteria provided, single submitter | clinical testing | The c.91C>A (p.P31T) alteration is located in exon 2 (coding exon 2) of the SUV39H1 gene. This alteration results from a C to A substitution at nucleotide position 91, causing the proline (P) at amino acid position 31 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |