ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.3746A>T (p.Asp1249Val)

gnomAD frequency: 0.00003  dbSNP: rs371037205
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001879838 SCV002117927 uncertain significance Jeune thoracic dystrophy 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 1249 of the DYNC2H1 protein (p.Asp1249Val). This variant is present in population databases (rs371037205, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with DYNC2H1-related conditions. ClinVar contains an entry for this variant (Variation ID: 975383). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002485989 SCV002789897 uncertain significance Asphyxiating thoracic dystrophy 3 2022-04-27 criteria provided, single submitter clinical testing
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001251975 SCV001427721 likely benign Intellectual disability 2019-01-01 no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573934 SCV001800524 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001573934 SCV001976280 uncertain significance not provided no assertion criteria provided clinical testing

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