Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004368518 | SCV004856061 | uncertain significance | Inborn genetic diseases | 2024-03-11 | criteria provided, single submitter | clinical testing | The c.1528G>A (p.A510T) alteration is located in exon 10 (coding exon 10) of the DMPK gene. This alteration results from a G to A substitution at nucleotide position 1528, causing the alanine (A) at amino acid position 510 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |