Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001008578 | SCV001168351 | likely pathogenic | not provided | 2019-02-12 | criteria provided, single submitter | clinical testing | The c.1766_1767insAA variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The variant is not observed in large population cohorts (Lek et al., 2016). It causes a frameshift starting with codon Phenylalanine 589, changes this amino acid to a Leucine residue and creates a premature Stop codon at position 18 of the new reading frame, denoted p.Phe589LeufsX18. This variant is predicted to cause loss of normal protein function through protein truncation. We interpret this variant as likely pathogenic. |