Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002940797 | SCV003668745 | uncertain significance | Inborn genetic diseases | 2022-12-13 | criteria provided, single submitter | clinical testing | The c.1550A>G (p.E517G) alteration is located in exon 11 (coding exon 11) of the DMPK gene. This alteration results from a A to G substitution at nucleotide position 1550, causing the glutamic acid (E) at amino acid position 517 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |