ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.1855C>T (p.Gln619Ter)

dbSNP: rs1260978141
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rare Disease Group, Clinical Genetics, Karolinska Institutet RCV000754942 SCV000788367 pathogenic Jeune thoracic dystrophy 2018-05-01 criteria provided, single submitter research
Clinical Genetics and Genomics, Karolinska University Hospital RCV001269846 SCV001450147 pathogenic not provided 2015-12-22 criteria provided, single submitter clinical testing
Invitae RCV000754942 SCV004695758 pathogenic Jeune thoracic dystrophy 2023-06-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 558745). This variant has not been reported in the literature in individuals affected with DYNC2H1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Gln619*) 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).

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