Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV003259731 | SCV003954887 | uncertain significance | Inborn genetic diseases | 2023-05-16 | criteria provided, single submitter | clinical testing | The c.943A>C (p.K315Q) alteration is located in exon 7 (coding exon 7) of the DNM2 gene. This alteration results from a A to C substitution at nucleotide position 943, causing the lysine (K) at amino acid position 315 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |