ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.10828dup (p.Ile3610fs)

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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 RCV003587585 SCV004310043 pathogenic Jeune thoracic dystrophy 2023-11-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile3617Asnfs*3) 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 (rs766275230, gnomAD 0.01%). 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 RCV005047701 SCV005680482 pathogenic Asphyxiating thoracic dystrophy 3 2024-02-17 criteria provided, single submitter clinical testing

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