Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002517158 | SCV003524598 | pathogenic | not provided | 2023-11-13 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 117 of the DYNC2LI1 protein (p.Leu117Val). This variant is present in population databases (rs201948500, gnomAD 0.01%). This missense change has been observed in individual(s) with short-rib thoracic dysplasia (PMID: 26077881, 32815859). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 212765). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. For these reasons, this variant has been classified as Pathogenic. |
David Geffen School of Medicine, |
RCV000754096 | SCV000212252 | pathogenic | Asphyxiating thoracic dystrophy 1 | no assertion criteria provided | research | ||
David Geffen School of Medicine, |
RCV000754096 | SCV000212253 | pathogenic | Asphyxiating thoracic dystrophy 1 | no assertion criteria provided | research | ||
OMIM | RCV000239697 | SCV000298007 | pathogenic | Short-rib thoracic dysplasia 15 with polydactyly | 2015-06-16 | no assertion criteria provided | literature only |