ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.3059T>G (p.Leu1020Ter)

gnomAD frequency: 0.00001  dbSNP: rs373335226
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521701 SCV000618101 likely pathogenic not provided 2023-09-25 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Identified with a second DYNC2H1 variant in patients with skeletal dysplasia referred for genetic testing at GeneDx and in published literature (Zhang et al., 2018); This variant is associated with the following publications: (PMID: 29068549)
Labcorp Genetics (formerly Invitae), Labcorp RCV003748238 SCV004519589 pathogenic Jeune thoracic dystrophy 2024-03-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu1020*) in the DYNC2H1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DYNC2H1 are known to be pathogenic (PMID: 23339108, 32753734, 33755199). This variant is present in population databases (rs373335226, gnomAD 0.09%). This premature translational stop signal has been observed in individual(s) with short-rib polydactyly syndrome (PMID: 29068549). ClinVar contains an entry for this variant (Variation ID: 446537). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV001291393 SCV005678287 likely pathogenic Asphyxiating thoracic dystrophy 3 2024-05-20 criteria provided, single submitter clinical testing
Dan Cohn Lab, University Of California Los Angeles RCV001291393 SCV000611912 pathogenic Asphyxiating thoracic dystrophy 3 2017-06-01 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV001291393 SCV001479869 likely pathogenic Asphyxiating thoracic dystrophy 3 no assertion criteria provided research

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