ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.10196T>A (p.Leu3399Ter)

dbSNP: rs2496626872
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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 RCV003587900 SCV004324268 pathogenic Jeune thoracic dystrophy 2023-09-19 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu3406*) 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 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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