ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.6265A>G (p.Asn2089Asp)

dbSNP: rs753662982
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003424069 SCV004106812 likely pathogenic DYNC2H1-related disorder 2023-07-16 criteria provided, single submitter clinical testing The DYNC2H1 c.6265A>G variant is predicted to result in the amino acid substitution p.Asn2089Asp. This variant was reported in the compound heterozygous state in at least one individual with asphyxiating thoracic dystrophy (Supplementary Table S2, Zhang et al. 2018. PubMed ID: 29068549). This variant is reported in 0.00089% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/11-103049880-A-G). This variant is interpreted as likely pathogenic.
Dan Cohn Lab, University Of California Los Angeles RCV000516124 SCV000611933 pathogenic Jeune thoracic dystrophy 2017-06-01 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV000516124 SCV001479591 likely pathogenic Jeune thoracic dystrophy no assertion criteria provided research

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