ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.11489A>G (p.Tyr3830Cys)

gnomAD frequency: 0.00002  dbSNP: rs757922501
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000501186 SCV000594466 uncertain significance not specified 2015-11-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002524180 SCV003023726 uncertain significance Jeune thoracic dystrophy 2024-10-16 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 3837 of the DYNC2H1 protein (p.Tyr3837Cys). This variant is present in population databases (rs757922501, gnomAD 0.005%). 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: 435007). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt DYNC2H1 protein function with a positive predictive value of 95%. 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.

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