Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001008302 | SCV001168070 | likely pathogenic | not provided | 2018-08-10 | criteria provided, single submitter | clinical testing | The c.723delC variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.723delC variant is not observed in large population cohorts (Lek et al., 2016). The deletion causes a frameshift starting with codon Threonine 243, changes this amino acid to a Proline residue and creates a premature Stop codon at position 10 of the new reading frame, denoted p.Thr243ProfsX10. This pathogenic variant is predicted to cause loss of normal protein function through protein truncation as the last 267 amino acids of the protein are replaced with 9 aberrant amino acids. We classify this variant as likely pathogenic. |