ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.10585C>T (p.Arg3529Ter) (rs562139820)

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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 RCV000515933 SCV000612003 pathogenic Short-rib polydactyly syndrome type III 2017-06-01 no assertion criteria provided research
Invitae RCV000459333 SCV000546161 pathogenic Jeune thoracic dystrophy 2016-10-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 3536 (p.Arg3536*) of 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. This particular variant has been reported in the literature in an individual affected with asphyxiating thoracic dystrophy (PMID: 23339108). For these reasons, this variant has been classified as Pathogenic.

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