ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.7284T>A (p.Cys2428Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003866532 SCV004669149 pathogenic Jeune thoracic dystrophy 2023-10-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys2428*) 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 (rs770936919, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with DYNC2H1-related conditions. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005040585 SCV005678326 likely pathogenic Asphyxiating thoracic dystrophy 3 2024-05-22 criteria provided, single submitter clinical testing

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