Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000523680 | SCV000618786 | pathogenic | not provided | 2017-07-14 | criteria provided, single submitter | clinical testing | The c.1377dupA variant in the FLVCR1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1377dupA variant causes a frameshift starting with codon Glycine 460, changes this amino acid to a Arginine residue, and creates a premature Stop codon at position 8 of the new reading frame, denoted p.Gly460ArgfsX8. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1377dupA variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.1377dupA as a pathogenic variant. |