Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002693374 | SCV003726879 | uncertain significance | Inborn genetic diseases | 2022-05-18 | criteria provided, single submitter | clinical testing | The c.1805T>A (p.L602H) alteration is located in exon 14 (coding exon 14) of the DMPK gene. This alteration results from a T to A substitution at nucleotide position 1805, causing the leucine (L) at amino acid position 602 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |