Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV003295122 | SCV003995090 | uncertain significance | Inborn genetic diseases | 2023-06-02 | criteria provided, single submitter | clinical testing | The c.1283C>T (p.P428L) alteration is located in exon 9 (coding exon 9) of the DMPK gene. This alteration results from a C to T substitution at nucleotide position 1283, causing the proline (P) at amino acid position 428 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |