Submissions for variant NM_001377.3(DYNC2H1):c.6271A>G (p.Asn2091Asp)

dbSNP: rs1555057881

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001291049	SCV002506266	uncertain significance	Asphyxiating thoracic dystrophy 3	2022-02-11	criteria provided, single submitter	clinical testing	The DYNC2H1 c.6271A>G; p.Asn2091Asp variant (rs1555057881) is reported in the literature in a patient with short rib-polydactyly syndrome type 3 (SRPS type III) who also carried an additional pathogenic DYNC2H1 variant (Zhang 2018). The p.Asn2091Asp variant is also reported in ClinVar (Variation ID: 446574). It is absent from the Genome Aggregation Database, indicating it is not a common polymorphism. The asparagine at codon 2091 is highly conserved, and computational analyses predict that this variant is deleterious (REVEL: 0.773). However, due to limited information, the clinical significance of this variant is uncertain at this time. References: Zhang W et al. Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. Hum Mutat. 2018 Jan;39(1):152-166. PMID: 29068549.
Dan Cohn Lab, University Of California Los Angeles	RCV001291049	SCV000611963	pathogenic	Asphyxiating thoracic dystrophy 3	2017-06-01	no assertion criteria provided	research
University of Washington Center for Mendelian Genomics, University of Washington	RCV001291049	SCV001479389	likely pathogenic	Asphyxiating thoracic dystrophy 3		no assertion criteria provided	research