Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Hacettepe Genetic Diseases Diagnosis Center, |
RCV000778116 | SCV000854635 | likely pathogenic | 3M syndrome 1 | 2018-08-27 | no assertion criteria provided | clinical testing | The c.206dupT (p.Met69Ilefs*5) variant in CUL7 has been observed in a 20 year-old-Turkish male 3-M syndrome patient and his older affected sibling. There was parental consanguinity and autosomal recessive inheritance pattern matching for this variant. Patient and his older sibling presented the characteristic features of 3-M syndrome. The c.206dup (p.Met69Ilefs*5) variant meets our criteria to be classified as likely pathogenic. |