Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000252909 | SCV000303824 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000252909 | SCV000514896 | likely benign | not specified | 2015-05-20 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Ce |
RCV000658687 | SCV000780473 | likely benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | TGM1: BS2 |
Invitae | RCV000658687 | SCV001110112 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000013298 | SCV001267281 | uncertain significance | Autosomal recessive congenital ichthyosis 1 | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Laboratory for Molecular Medicine, |
RCV000252909 | SCV004847367 | likely benign | not specified | 2024-01-02 | criteria provided, single submitter | clinical testing | The p.Ser42Tyr variant in TGM1 is classified as likely benign because it has been identified in 1.3% (4/316) of Middle Eastern and 0.67% (71/10628) of European Finnish chromosomes by gnomAD (http://gnomad.broadinstitute.org, v.3.1.2), which is greater than the expected frequency of a pathogenic TGM1 variant causing disease. In addition, in vitro functional studies provide some evidence that this variant does not impact or increases protein expression (Candi 1998 PMID: 9593710, Numata 2016 PMID: 26990434). ACMG/AMP Criteria applied: BS1, BS3_Supporting. |
OMIM | RCV000013298 | SCV000033545 | pathogenic | Autosomal recessive congenital ichthyosis 1 | 1995-01-27 | no assertion criteria provided | literature only | |
Natera, |
RCV000013298 | SCV001460574 | benign | Autosomal recessive congenital ichthyosis 1 | 2020-01-02 | no assertion criteria provided | clinical testing | |
Genome |
RCV000013298 | SCV002030788 | not provided | Autosomal recessive congenital ichthyosis 1 | no assertion provided | phenotyping only | Variant interpreted as Uncertain significance and reported on 01-16-2019 by Lab or GTR ID 1006. Assertions are reported exactly as they appear on the patient provided laboratory report. GenomeConnect does not attempt to reinterpret the variant. The IDDRC-CTSA National Brain Gene Registry (BGR ) is a study funded by the U.S. National Center for Advancing Translational Sciences (NCATS) and includes 13 Intellectual and Developmental Disability Research Center (IDDRC) institutions. The study is led by Principal Investigator John Constantino MD PhD from Washington University. The BGR is a data commons of gene variants paired with subject clinical information. This database helps scientists learn more about genetic changes and their impact on the brain and behavior. Participation in the Brain Gene Registry requires participation in GenomeConnect. |