Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Foundation for Research in Genetics and Endocrinology, |
RCV000201247 | SCV001429633 | likely pathogenic | Autosomal recessive congenital ichthyosis 1 | 2020-05-20 | criteria provided, single submitter | clinical testing | A homozygous missense variation in exon 9 of the TGM1 gene that results in the amino acid substitution of Arginine for Tryptophan at codon 455 was detected. The observed variant c.1363T>C (p.Trp455Arg) has not been reported in the 1000 genomes and ExAC databases. The observed variation lies in the transglutaminase-like superfamily domain of the TGM1 protein and has previously been reported in patients affected with congenital ichthyosis (Ullah, Rahim et al. 2016). The in silico prediction 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 meets our criteria to be classified as likely pathogenic. |
Department of Molecular and Human Genetics, |
RCV000201247 | SCV000249618 | pathogenic | Autosomal recessive congenital ichthyosis 1 | no assertion criteria provided | research | ||
University of Washington Center for Mendelian Genomics, |
RCV000755137 | SCV000882959 | pathogenic | Ichthyosis | 2015-11-17 | no assertion criteria provided | research |