Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Foundation for Research in Genetics and Endocrinology, |
RCV000761559 | SCV000891125 | likely pathogenic | Immunoskeletal dysplasia with neurodevelopmental abnormalities | 2019-03-13 | criteria provided, single submitter | clinical testing | The observed variant NM_001440.3:c.953C>T/p.Pro318Leu is a homozygous missense variation in exon 3 of the EXTL3 gene. It has not been reported in the 1000 Genomes and ExAC databases but has been reported as a pathogenic variant by Guo. et al (2017). The in silico prediction of this variant is disease causing by PolyPhen-2, SIFT, LRT and MutationTaster2. The reference codon is conserved across species. |
Gene |
RCV001592949 | SCV001815202 | pathogenic | not provided | 2019-03-25 | criteria provided, single submitter | clinical testing | Published functional studies demonstrate a damaging effect with significantly decreased enzyme activity compared to wild type (Guo et al., 2017); Not observed at a significant frequency in large population cohorts (Lek et al., 2016; McVean et al., 2012; Exome Variant Server); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 28331220) |