ClinVar Miner

Submissions for variant NM_016008.4(DYNC2LI1):c.372G>A (p.Trp124Ter)

gnomAD frequency: 0.00001  dbSNP: rs769975073
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001853128 SCV002238932 pathogenic not provided 2022-08-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 212766). This premature translational stop signal has been observed in individual(s) with short-rib thoracic dysplasia (PMID: 26077881). This variant is present in population databases (rs769975073, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Trp124*) in the DYNC2LI1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DYNC2LI1 are known to be pathogenic (PMID: 26077881, 26130459).
David Geffen School of Medicine, University of California, Los Angeles RCV000754097 SCV000212254 pathogenic Asphyxiating thoracic dystrophy 1 no assertion criteria provided research
OMIM RCV000239657 SCV000298009 pathogenic Short-rib thoracic dysplasia 15 with polydactyly 2015-06-16 no assertion criteria provided literature only

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