ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.1678C>T (p.Arg560Ter)

gnomAD frequency: 0.00001  dbSNP: rs925675970
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003748834 SCV004523146 pathogenic Jeune thoracic dystrophy 2024-10-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg560*) 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 (no rsID available, gnomAD 0.007%). 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.

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