ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.7435C>T (p.Gln2479Ter)

dbSNP: rs200989423
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001596853 SCV001832344 likely pathogenic not provided 2019-11-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003748351 SCV004518969 pathogenic Jeune thoracic dystrophy 2023-12-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln2479*) 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 not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with DYNC2H1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1224315). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005050395 SCV005678328 pathogenic Asphyxiating thoracic dystrophy 3 2024-05-26 criteria provided, single submitter clinical testing

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