Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004368517 | SCV004856060 | uncertain significance | Inborn genetic diseases | 2023-12-22 | criteria provided, single submitter | clinical testing | The c.1406C>G (p.A469G) alteration is located in exon 10 (coding exon 10) of the DMPK gene. This alteration results from a C to G substitution at nucleotide position 1406, causing the alanine (A) at amino acid position 469 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |