Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001008333 | SCV001168101 | likely pathogenic | not provided | 2018-08-30 | criteria provided, single submitter | clinical testing | The c.555_558delAGGAinsGGG variant in the GHR gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.555_558delAGGAinsGGG variant replaces 4 nucleotides with 3 incorrect nucleotides, causing a frameshift starting with codon Tryptophan 187, changes this amino acid to a Glycine residue, and creates a premature Stop codon at position 13 of the new reading frame, denoted p.Trp187GlyfsX13. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.555_558delAGGAinsGGG variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.555_558delAGGAinsGGG as a likely pathogenic variant. |