ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.9820-2A>G (rs864622111)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000414269 SCV000491565 likely pathogenic not provided 2016-09-09 criteria provided, single submitter clinical testing A novel c.9841-2 A>G likely pathogenic variant was identified in the DYNC2H1 gene. It has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.9841-2 A>G splice site variant destroys the canonical splice acceptor site in intron 64. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. The c.9841-2 A>G variant was not observed in approximately 5800 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This substitution occurs at a position that is conserved across species. Therefore, this variant is likely pathogenic.
Invitae RCV000206518 SCV000259364 likely pathogenic Jeune thoracic dystrophy 2015-07-09 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 64. It is expected to disrupt mRNA splicing and likely results in an absent or disrupted protein product. While this particular variant has not been reported in the literature, truncating variants in DYNC2H1 are known to be pathogenic (PMID: 22499340, 23339108). For these reasons, this variant has been classified as Likely Pathogenic.

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