ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.6480T>A (p.Asn2160Lys)

gnomAD frequency: 0.00004  dbSNP: rs775426647
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001857882 SCV002165152 uncertain significance Jeune thoracic dystrophy 2022-04-09 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 2160 of the DYNC2H1 protein (p.Asn2160Lys). This variant is present in population databases (rs775426647, gnomAD 0.008%). This missense change has been observed in individual(s) with DYNC2H1-related conditions (PMID: 29068549). ClinVar contains an entry for this variant (Variation ID: 446572). 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 C15"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001291047 SCV002568309 likely pathogenic Asphyxiating thoracic dystrophy 3 2022-04-27 criteria provided, single submitter clinical testing PM1, PM2, PM3
Dan Cohn Lab, University Of California Los Angeles RCV001291047 SCV000611961 pathogenic Asphyxiating thoracic dystrophy 3 2017-06-01 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV001291047 SCV001479387 likely pathogenic Asphyxiating thoracic dystrophy 3 no assertion criteria provided research

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