ClinVar Miner

Submissions for variant NM_016008.4(DYNC2LI1):c.349C>G (p.Leu117Val)

gnomAD frequency: 0.00005  dbSNP: rs201948500
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Total submissions: 4
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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, University of California, Los Angeles RCV000754096 SCV000212252 pathogenic Asphyxiating thoracic dystrophy 1 no assertion criteria provided research
David Geffen School of Medicine, University of California, Los Angeles 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

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