ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.6220C>T (p.Arg2074Ter)

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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 RCV003749585 SCV004485968 pathogenic Jeune thoracic dystrophy 2023-05-31 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with DYNC2H1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg2074*) 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).
Fulgent Genetics, Fulgent Genetics RCV005047746 SCV005678316 likely pathogenic Asphyxiating thoracic dystrophy 3 2024-01-15 criteria provided, single submitter clinical testing

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