Submissions for variant NM_001377.3(DYNC2H1):c.7663G>A (p.Val2555Met)

gnomAD frequency: 0.00001  dbSNP: rs746195428

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	RCV004767317	SCV005381026	uncertain significance	not specified	2024-08-15	criteria provided, single submitter	clinical testing	Variant summary: DYNC2H1 c.7663G>A (p.Val2555Met) results in a conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant was absent in 244838 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.7663G>A has been reported in the literature in individuals affected with Asphyxiating thoracic dystrophy (Schmidts_2013, Zhang_2018). These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 23456818, 29068549). ClinVar contains an entry for this variant (Variation ID: 446589). Based on the evidence outlined above, the variant was classified as uncertain significance.
Dan Cohn Lab, University Of California Los Angeles	RCV000516053	SCV000611984	pathogenic	Jeune thoracic dystrophy	2017-06-01	no assertion criteria provided	research
University of Washington Center for Mendelian Genomics, University of Washington	RCV000516053	SCV001479574	likely pathogenic	Jeune thoracic dystrophy		no assertion criteria provided	research