Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Rady Children's Institute for Genomic Medicine, |
RCV004545860 | SCV004046373 | likely pathogenic | ABCB4-related disorder | criteria provided, single submitter | clinical testing | This frameshifting variant in exon 13 of 28 introduces a premature stop codon and is therefore predicted to result in loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay (NMD). This variant has not been previously reported or functionally characterized in the literature to our knowledge. The c.1406_1409del (p.Arg469LysfsTer6) variant is absent from the gnomAD population database and thus is presumed to be rare.Based on the available evidence, the c.1406_1409del (p.Arg469LysfsTer6) variant is classified as Likely Pathogenic. |