Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001009122 | SCV001168933 | pathogenic | not provided | 2018-11-05 | criteria provided, single submitter | clinical testing | The c.6325delA 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 Isoleucine 2109, changes this amino acid to a Phenylalanine residue and creates a premature Stop codon at position 20 of the new reading frame, denoted p.Ile2109PhefsX20. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. We consider this variant to be pathogenic. |