ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.5547del (p.Phe1849fs) (rs771003300)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000470853 SCV000546171 pathogenic Jeune thoracic dystrophy 2016-09-11 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 35 of the DYNC2H1 mRNA (c.5547delC), causing a frameshift at codon 1849. This creates a premature translational stop signal (p.Phe1849Leufs*8) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in DYNC2H1 are known to be pathogenic (PMID: 23339108, 23456818). For these reasons, this variant has been classified as Pathogenic.

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