Submissions for variant NM_018051.5(DYNC2I1):c.2284C>T (p.Arg762Ter)

gnomAD frequency: 0.00001  dbSNP: rs1456300819

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV004701585	SCV005203508	pathogenic	Short-rib thoracic dysplasia 8 with or without polydactyly	2024-07-16	criteria provided, single submitter	clinical testing	Variant summary: DYNC2I1 c.2284C>T (p.Arg762X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 248022 control chromosomes. To our knowledge, no occurrence of c.2284C>T in individuals affected with Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 446629). Based on the evidence outlined above, the variant was classified as pathogenic.
Dan Cohn Lab, University Of California Los Angeles	RCV001291413	SCV000612036	pathogenic	Asphyxiating thoracic dystrophy 3	2017-06-01	no assertion criteria provided	research
University of Washington Center for Mendelian Genomics, University of Washington	RCV001291413	SCV001479913	likely pathogenic	Asphyxiating thoracic dystrophy 3		no assertion criteria provided	research