Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001316479 | SCV001507103 | uncertain significance | Jeune thoracic dystrophy | 2021-08-27 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine with glutamic acid at codon 4306 of the DYNC2H1 protein (p.Gly4306Glu). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and glutamic acid. This variant is present in population databases (rs770569272, ExAC 0.002%). This missense change has been observed in individual(s) with clinical features of DYNC2H1-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 446681). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Dan Cohn Lab, |
RCV000515978 | SCV000612112 | uncertain significance | Short-rib thoracic dysplasia 6 with or without polydactyly | 2017-06-01 | no assertion criteria provided | research | |
University of Washington Center for Mendelian Genomics, |
RCV000515978 | SCV001479544 | likely pathogenic | Short-rib thoracic dysplasia 6 with or without polydactyly | no assertion criteria provided | research |