Submissions for variant NM_001377.3(DYNC2H1):c.3353del (p.Ser1118fs)

gnomAD frequency: 0.00002  dbSNP: rs755338872

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000176375	SCV000228023	pathogenic	not provided	2015-05-04	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000515897	SCV004683346	pathogenic	Jeune thoracic dystrophy	2024-01-17	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Ser1118Ilefs*46) 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). This variant is present in population databases (rs755338872, gnomAD 0.005%). This premature translational stop signal has been observed in individual(s) with DYNC2H1-related conditions (PMID: 29068549). ClinVar contains an entry for this variant (Variation ID: 195733). For these reasons, this variant has been classified as Pathogenic.
Dan Cohn Lab, University Of California Los Angeles	RCV000515897	SCV000611940	pathogenic	Jeune thoracic dystrophy	2017-06-01	no assertion criteria provided	research
University of Washington Center for Mendelian Genomics, University of Washington	RCV000515897	SCV001479369	likely pathogenic	Jeune thoracic dystrophy		no assertion criteria provided	research