ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.2353C>T (p.Arg785Ter)

dbSNP: rs755883373
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center RCV000490314 SCV000267298 likely pathogenic Asphyxiating thoracic dystrophy 3 2016-03-18 criteria provided, single submitter reference population
Invitae RCV002517442 SCV003230299 pathogenic Jeune thoracic dystrophy 2023-09-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg785*) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 225345). For these reasons, this variant has been classified as Pathogenic.

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