ClinVar Miner

Submissions for variant NM_000443.4(ABCB4):c.3481C>T (p.Pro1161Ser)

gnomAD frequency: 0.00003  dbSNP: rs121918442
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000267429 SCV000344232 uncertain significance not provided 2018-03-02 criteria provided, single submitter clinical testing
Invitae RCV000267429 SCV003439979 uncertain significance not provided 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1161 of the ABCB4 protein (p.Pro1161Ser). This variant is present in population databases (rs121918442, gnomAD 0.006%). This missense change has been observed in individual(s) with autosomal recessive cholestasis and/or low phospholipid associated cholelithiasis (PMID: 11313316, 12891548, 28587926). ClinVar contains an entry for this variant (Variation ID: 13692). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on ABCB4 protein function. Experimental studies have shown that this missense change affects ABCB4 function (PMID: 28587926). 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.
Revvity Omics, Revvity RCV000267429 SCV003813924 likely pathogenic not provided 2022-07-05 criteria provided, single submitter clinical testing
OMIM RCV000014691 SCV000034946 pathogenic Low phospholipid associated cholelithiasis 2001-05-01 no assertion criteria provided literature only

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