Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000515843 | SCV001671031 | likely benign | Jeune thoracic dystrophy | 2022-07-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000860526 | SCV002008689 | uncertain significance | not provided | 2020-11-09 | criteria provided, single submitter | clinical testing | Identified in a prenatal proband with short-rib polydactyly syndromes in published literature (Zhang et al., 2018); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 29068549, 31589614, 33369054) |
Dan Cohn Lab, |
RCV000515843 | SCV000612025 | pathogenic | Jeune thoracic dystrophy | 2017-06-01 | no assertion criteria provided | research | |
Reproductive Health Research and Development, |
RCV000991172 | SCV001142425 | uncertain significance | Asphyxiating thoracic dystrophy 3 | 2020-01-06 | no assertion criteria provided | curation | NM_001080463.1:c.7967G>A in the DYNC2H1 gene has an allele frequency of 0.006 in Ashkenazi Jewish subpopulation in the gnomAD database. Pathogenic computational verdict because pathogenic predictions from DANN, DEOGEN2, EIGEN, FATHMM-MKL, M-CAP, MutationAssessor, MutationTaster and SIFT. Zhang et al reported a Caucasian patient with short-rib polydactyly syndromes type I (c.[7268C>A];[7967G>T], in trans) and a Latino patient with asphyxiating thoracic dystrophy ([5984C>T];[7967G>T], in trans)(PMID: 29068549). However, the pathogenicity of c.7268C>A and 5984C>T was uncertain. We interpret it as a variant of uncertain significance favor of likely pathogenic. ACMG/AMP criteria applied: PP3, PP4. |
University of Washington Center for Mendelian Genomics, |
RCV000515843 | SCV001479902 | likely pathogenic | Jeune thoracic dystrophy | no assertion criteria provided | research |