Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center of Excellence in Genomics and Precision Dentistry, |
RCV001264780 | SCV001250652 | likely pathogenic | Hypomyelinating leukodystrophy 10 | criteria provided, single submitter | research | The c.400G>A (p.Val134Met) in PYCR2 located in NAD(P)-binding domain. The missense mutation in this domain was previously reported in patients with hypomyelinating leukodystrophy 10 (Nakayama et al., 2015). The variant is classified as likely pathogenic using ACMG guideline with the following evidence; PM1, PM2, PP2, PP3 and PP4. |