Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Foundation for Research in Genetics and Endocrinology, |
RCV002281891 | SCV002569367 | uncertain significance | Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 | 2022-02-04 | criteria provided, single submitter | clinical testing | A heterozygous missense variation in exon 21 of the COL1A2 gene that results in the amino acid substitution of Valine for Glycine at codon 382. The p.Gly382Val variant has not been reported in the 1000 genomes, gnomAD. The in silico predictions of the variant are probably damaging by PolyPhen-2 (HumDiv) and damaging by SIFT, LRT and MutationTaster2. The reference codon is conserved across species. In summary, the variant is classed as a variant of uncertain significance based on the aforementioned evidence. |