Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000599166 | SCV000710197 | likely pathogenic | not provided | 2017-11-28 | criteria provided, single submitter | clinical testing | The c.2929_2932delCTAT variant in the INSR gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.2929_2932delCTAT variant causes a frameshift starting with codon Leucine 977, changes this amino acid to a Serine residue, and creates a premature Stop codon at position 2 of the new reading frame, denoted p.Leu977SerfsX2. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.2929_2932delCTAT variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.2929_2932delCTAT as a likely pathogenic variant. |