ClinVar Miner

Submissions for variant NM_000443.4(ABCB4):c.1406_1409del (p.Arg469fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 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.

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