Submissions for variant NM_001377.3(DYNC2H1):c.7577T>G (p.Ile2526Ser)

gnomAD frequency: 0.00001  dbSNP: rs762588952

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV003403207	SCV004111216	likely pathogenic	DYNC2H1-related disorder	2023-02-01	criteria provided, single submitter	clinical testing	The DYNC2H1 c.7577T>G variant is predicted to result in the amino acid substitution p.Ile2526Ser. This variant has been reported in fetuses affected with short rib-polydactyly syndrome (Ellard et al 2015. PubMed ID: 24961629; Table S2 in Zhang W et al 2017. PubMed ID: 29068549). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Based on the available evidence, this variant is interpreted as likely pathogenic.
Fulgent Genetics, Fulgent Genetics	RCV001291179	SCV005678331	likely pathogenic	Asphyxiating thoracic dystrophy 3	2024-05-31	criteria provided, single submitter	clinical testing
Dan Cohn Lab, University Of California Los Angeles	RCV001291179	SCV000611960	pathogenic	Asphyxiating thoracic dystrophy 3	2017-06-01	no assertion criteria provided	research
University of Washington Center for Mendelian Genomics, University of Washington	RCV001291179	SCV001479602	likely pathogenic	Asphyxiating thoracic dystrophy 3		no assertion criteria provided	research