Submissions for variant NM_001377.3(DYNC2H1):c.10585C>T (p.Arg3529Ter)

gnomAD frequency: 0.00001  dbSNP: rs562139820

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000459333	SCV000546161	pathogenic	Jeune thoracic dystrophy	2023-11-06	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Arg3536*) 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 (rs562139820, gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with asphyxiating thoracic dystrophy (PMID: 23339108). ClinVar contains an entry for this variant (Variation ID: 407155). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics	RCV001291287	SCV005680473	pathogenic	Asphyxiating thoracic dystrophy 3	2024-03-18	criteria provided, single submitter	clinical testing
Dan Cohn Lab, University Of California Los Angeles	RCV001291287	SCV000612003	pathogenic	Asphyxiating thoracic dystrophy 3	2017-06-01	no assertion criteria provided	research
University of Washington Center for Mendelian Genomics, University of Washington	RCV001291287	SCV001479737	likely pathogenic	Asphyxiating thoracic dystrophy 3		no assertion criteria provided	research