Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Genetics Laboratory, |
RCV001199406 | SCV001365393 | likely pathogenic | Short stature-brachydactyly-obesity-global developmental delay syndrome | 2018-06-01 | criteria provided, single submitter | clinical testing | We performed whole exome sequencing on the patients DNA sample. The analysis revealed a novel homozygous variant in PRMT7: c.1074_1075delAG: p.Arg358fs. This is a truncating variant which is also absent from databases (gnomAD, EXAC). The variant was validated by sanger sequencing in the patient in our clinical lab. Familial segregation showed that both parents were heterozygous carriers and their older healthy 6 year old son didn't carry this variant at all, further investigation in the DNA sample from the fetus found that the fetus was homozygous for this variant as well. |
OMIM | RCV001199406 | SCV001370543 | pathogenic | Short stature-brachydactyly-obesity-global developmental delay syndrome | 2020-07-04 | no assertion criteria provided | literature only |