Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000256089 | SCV000321962 | pathogenic | not provided | 2019-10-23 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 31168818, 18948357, 27025581, 19863506, 20137757, 19241467) |
Center for Pediatric Genomic Medicine, |
RCV000256089 | SCV000609826 | pathogenic | not provided | 2017-03-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000256089 | SCV001588233 | pathogenic | not provided | 2023-10-11 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 291 of the TGM1 protein (p.Gly291Asp). This variant is present in population databases (rs780990272, gnomAD 0.003%). This missense change has been observed in individuals with autosomal recessive congenital ichthyosis (PMID: 19241467, 19863506, 27025581, 28403434). ClinVar contains an entry for this variant (Variation ID: 265269). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt TGM1 protein function. This variant disrupts the p.Gly291 amino acid residue in TGM1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 19262603, 30600594). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. |
Genome- |
RCV000666325 | SCV002763818 | pathogenic | Autosomal recessive congenital ichthyosis 1 | criteria provided, single submitter | clinical testing | ||
Fulgent Genetics, |
RCV000666325 | SCV002780422 | pathogenic | Autosomal recessive congenital ichthyosis 1 | 2022-04-25 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000666325 | SCV004203734 | pathogenic | Autosomal recessive congenital ichthyosis 1 | 2023-10-18 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000666325 | SCV000790598 | likely pathogenic | Autosomal recessive congenital ichthyosis 1 | 2017-03-31 | no assertion criteria provided | clinical testing | |
Natera, |
RCV000666325 | SCV002091225 | pathogenic | Autosomal recessive congenital ichthyosis 1 | 2021-06-04 | no assertion criteria provided | clinical testing |