ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.2702+1G>A (rs864622358)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000204107 SCV000260278 pathogenic Jeune thoracic dystrophy 2015-08-28 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 18. It is expected to disrupt mRNA splicing and likely results in an absent or disrupted protein product. While this particular variant has not been reported in the literature, truncating variants in DYNC2H1 are known to be pathogenic (PMID: 22499340, 23339108). This variant was found in trans with a pathogenic variant in DYNC2H1 (c.1757T>G) in the proband of this family who was diagnosed with asphyxiating thoracic dystrophy. The phase of the two variants were confirmed through parental testing. For these reasons, this variant has been classified as Pathogenic.

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