ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.5925del (p.Val1976fs)

dbSNP: rs1380132788
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000515929 SCV004540573 pathogenic Jeune thoracic dystrophy 2023-03-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Val1976Leufs*17) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with autosomal recessive asphyxiating thoracic dystrophy (aka Jeune syndrome) (PMID: 29068549). ClinVar contains an entry for this variant (Variation ID: 446588).
Dan Cohn Lab, University Of California Los Angeles RCV000515929 SCV000611983 pathogenic Jeune thoracic dystrophy 2017-06-01 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV000515929 SCV001479573 likely pathogenic Jeune thoracic dystrophy no assertion criteria provided research

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