ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.8145_8146delinsAT (p.Tyr2715_Gln2716delinsTer)

dbSNP: rs1565390180
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000734875 SCV000863053 pathogenic not provided 2018-08-17 criteria provided, single submitter clinical testing
Invitae RCV001855821 SCV002240164 pathogenic Jeune thoracic dystrophy 2023-12-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr2715*) 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, 33755199). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This premature translational stop signal has been observed in individual(s) with asphyxiating thoracic dystrophy and/or short rib-polydactyly syndrome (PMID: 29068549; Invitae). ClinVar contains an entry for this variant (Variation ID: 598476). For these reasons, this variant has been classified as Pathogenic.

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