Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000478867 | SCV000572746 | likely pathogenic | not provided | 2017-02-07 | criteria provided, single submitter | clinical testing | The c.6188_6191delTAGA variant in the DYNC2H1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.6188_6191delTAGA variant causes a frameshift starting with codon Isoleucine 2063, changes this amino acid to an Asparagine residue, and creates a premature Stop codon at position 3 of the new reading frame, denoted p.Ile2063AsnfsX3. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.6188_6191delTAGA variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.6188_6191delTAGA as a likely pathogenic variant. |