ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.8283del (p.Phe2761fs)

dbSNP: rs1862810311
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill RCV001095684 SCV001251462 likely pathogenic Asphyxiating thoracic dystrophy 3 criteria provided, single submitter research The DYNC2H1 c.8283delT (p.F2761Lfs) variant is a frameshift single nucleotide deletion, which may result in a nonfunctional DYNC2H1 protein. To our knowledge, this variant has not been described in the literature.

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