ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.3059T>G (p.Leu1020Ter) (rs373335226)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dan Cohn Lab,University Of California Los Angeles RCV000516010 SCV000611912 pathogenic Short-rib polydactyly syndrome type III 2017-06-01 no assertion criteria provided research
GeneDx RCV000521701 SCV000618101 pathogenic not provided 2017-10-06 criteria provided, single submitter clinical testing The L1020X pathogenic variant in the DYNC2H1 gene has not been reported previously as apathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss ofnormal protein function either through protein truncation or nonsense-mediated mRNA decay. TheL1020X variant was not observed at any significant frequency in large population cohorts, indicating it is not a common benign variant in these populations. We interpret L1020X as a pathogenic variant.

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