Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Cell Biology and Neurobiology, |
RCV000761585 | SCV000808994 | pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 | 2018-09-20 | criteria provided, single submitter | clinical testing | We revealed a compound heterozygous missense mutation of POMT1 in exon 3 :c.226G>C (p.G76R), which is described before and in exon 6 c.443C>A (Thr148Asn), which is not described before. Both suffer from MDDGB1, a known phenotype associated with this gene. The family has another healthy daughter. |