ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.12295del (p.Leu4099fs) (rs1285287334)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001009165 SCV001168981 pathogenic not provided 2018-12-19 criteria provided, single submitter clinical testing The c.12295delC variant in the DNAH5 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.12295delC variant causes a frameshift starting with codon Leucine 4099, changes this amino acid to a Cysteine residue, and creates a premature Stop codon at position 14 of the new reading frame, denoted p.Leu4099CysfsX14. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.12295delC variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret c.12295delC as a pathogenic variant.

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