ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.7967G>A (p.Arg2656His)

gnomAD frequency: 0.00018  dbSNP: rs200614421
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000515843 SCV001671031 likely benign Jeune thoracic dystrophy 2022-07-19 criteria provided, single submitter clinical testing
GeneDx RCV000860526 SCV002008689 uncertain significance not provided 2020-11-09 criteria provided, single submitter clinical testing Identified in a prenatal proband with short-rib polydactyly syndromes in published literature (Zhang et al., 2018); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 29068549, 31589614, 33369054)
Dan Cohn Lab, University Of California Los Angeles RCV000515843 SCV000612025 pathogenic Jeune thoracic dystrophy 2017-06-01 no assertion criteria provided research
Reproductive Health Research and Development, BGI Genomics RCV000991172 SCV001142425 uncertain significance Asphyxiating thoracic dystrophy 3 2020-01-06 no assertion criteria provided curation NM_001080463.1:c.7967G>A in the DYNC2H1 gene has an allele frequency of 0.006 in Ashkenazi Jewish subpopulation in the gnomAD database. Pathogenic computational verdict because pathogenic predictions from DANN, DEOGEN2, EIGEN, FATHMM-MKL, M-CAP, MutationAssessor, MutationTaster and SIFT. Zhang et al reported a Caucasian patient with short-rib polydactyly syndromes type I (c.[7268C>A];[7967G>T], in trans) and a Latino patient with asphyxiating thoracic dystrophy ([5984C>T];[7967G>T], in trans)(PMID: 29068549). However, the pathogenicity of c.7268C>A and 5984C>T was uncertain. We interpret it as a variant of uncertain significance favor of likely pathogenic. ACMG/AMP criteria applied: PP3, PP4.
University of Washington Center for Mendelian Genomics, University of Washington RCV000515843 SCV001479902 likely pathogenic Jeune thoracic dystrophy no assertion criteria provided research

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