Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Foundation for Research in Genetics and Endocrinology, |
RCV000754712 | SCV000583505 | likely pathogenic | Duchenne muscular dystrophy | 2014-06-26 | no assertion criteria provided | clinical testing | The observed variant is not reported in 1000 Genomes and ExAC databases. The in silico prediction of the variant is damaging by MutationTaster2. Since 6 years of life the patient had difficulty walking and climbing stairs. He required support to get up from sitting position. Sometime patient used to fall down while walking. His elder sister is normal. His mother suffered miscarriage during first pregnancy. The DNA analysis of CVS sample during a subsequent pregnancy revealed that the fetus is normal for DMD deletion/duplication. |