ClinVar Miner

Submissions for variant NM_000443.4(ABCB4):c.2860G>A (p.Gly954Ser)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003037234 SCV003440035 uncertain significance not provided 2022-04-09 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 954 of the ABCB4 protein (p.Gly954Ser). This variant is present in population databases (rs779829759, gnomAD 0.002%). This missense change has been observed in individuals with clinical features of progressive familial intrahepatic cholestasis (PMID: 17726488, 29761167, 33763395, 34016879). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on ABCB4 function (PMID: 26474921). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
CeGaT Center for Human Genetics Tuebingen RCV003037234 SCV004010678 likely pathogenic not provided 2023-05-01 criteria provided, single submitter clinical testing ABCB4: PM2, PM3, PP4, PS3:Supporting
Rolfs Rare Disease Consulting, Rolfs Consulting Und Verwaltungs GmbH RCV003485807 SCV004232489 pathogenic Progressive familial intrahepatic cholestasis type 3 2020-01-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003037234 SCV004238846 uncertain significance not provided 2023-11-22 criteria provided, single submitter clinical testing

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