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

dbSNP: rs1565390180

Total submissions: 3

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
Labcorp Genetics (formerly Invitae), Labcorp	RCV001855821	SCV002240164	pathogenic	Jeune thoracic dystrophy	2024-02-02	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.
Fulgent Genetics, Fulgent Genetics	RCV005047007	SCV005678337	likely pathogenic	Asphyxiating thoracic dystrophy 3	2024-05-21	criteria provided, single submitter	clinical testing