ClinVar Miner

Submissions for variant NM_000443.4(ABCB4):c.1633C>G (p.Arg545Gly)

dbSNP: rs397514620
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003556101 SCV004294479 uncertain significance not provided 2023-05-13 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 39841). This missense change has been observed in individual(s) with autosomal dominant low phospholipid-associated cholelithiasis (PMID: 18482588). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 545 of the ABCB4 protein (p.Arg545Gly).
OMIM RCV000033068 SCV000056848 pathogenic Low phospholipid associated cholelithiasis 2008-07-01 no assertion criteria provided literature only

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