Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000484649 | SCV000570515 | likely pathogenic | not provided | 2016-05-26 | criteria provided, single submitter | clinical testing | The c.3626_3631dupCCGTGC variant in the EHMT1 gene has not been reported previously as a disease-causing pathogenic variant nor as a benign variant, to our knowledge. The c.3626_3631dupCCGTGC variant causes an in-frame duplication of codons Proline 1209 and Valine 1210, denoted p.Pro1209_Val1210dup. The c.3626_3631dupCCGTGC variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The c.3626_3631dupCCGTGC variant is a strong candidate for a pathogenic variant. |