ClinVar Miner

Submissions for variant NM_000443.4(ABCB4):c.3838T>C (p.Ter1280Arg)

gnomAD frequency: 0.00001  dbSNP: rs754770911
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000726408 SCV000344445 uncertain significance not provided 2017-11-27 criteria provided, single submitter clinical testing
GeneDx RCV000726408 SCV000521295 uncertain significance not provided 2017-01-27 criteria provided, single submitter clinical testing The c.3838 T>C variant has been reported previously, using alternate nomenclature, in an individual with progressive familial intrahepatic cholestasis III (Chinnaratha et al. 2013). The c.3838 T>C variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The c.3838 T>C nucleotide substitution results in the extension of the protein by 19 new amino acids, denoted p.X1280RextX19. Whether or not this extension affects normal protein function is not known in the absence of RNA/functional studies. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Rolfs Rare Disease Consulting, Rolfs Consulting Und Verwaltungs GmbH RCV003485571 SCV004232490 likely pathogenic Progressive familial intrahepatic cholestasis type 3 2019-01-01 criteria provided, single submitter clinical testing

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