ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.11161G>T (p.Glu3721Ter) (rs1555095233)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000497349 SCV000589769 likely pathogenic not provided 2016-03-05 criteria provided, single submitter clinical testing The E3728X variant in the DYNC2H1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The E3728X variant was not observed in approximately 5900 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The E3728X variant is a strong candidate for a pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded.

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