Submissions for variant NM_001377.3(DYNC2H1):c.1847_1852del (p.Ile616_Leu617del)

dbSNP: rs773897318

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV003424070	SCV004116644	uncertain significance	DYNC2H1-related disorder	2022-12-13	criteria provided, single submitter	clinical testing	The DYNC2H1 c.1847_1852del6 variant is predicted to result in an in-frame deletion (p.Ile616_Leu617del). This variant was reported in the compound heterozygous state with another DYNC2H1 missense variant in a patient with perinatal lethal short-rib polydactyly syndrome (Zhang et al 2018. PubMed ID: 29068549). At PreventionGenetics, we have observed this variant with a rare missense variant in a similarly affected family member (internal data). This variant is reported in 0.0019% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/11-102996010-ATTATTC-A). Although we suspect that this variant may be pathogenic, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Fulgent Genetics, Fulgent Genetics	RCV001291175	SCV005678273	likely pathogenic	Asphyxiating thoracic dystrophy 3	2024-03-15	criteria provided, single submitter	clinical testing
Dan Cohn Lab, University Of California Los Angeles	RCV001291175	SCV000611988	pathogenic	Asphyxiating thoracic dystrophy 3	2017-06-01	no assertion criteria provided	research
University of Washington Center for Mendelian Genomics, University of Washington	RCV001291175	SCV001479578	likely pathogenic	Asphyxiating thoracic dystrophy 3		no assertion criteria provided	research