ClinVar Miner

Submissions for variant NM_003742.4(ABCB11):c.1550G>A (p.Arg517His)

gnomAD frequency: 0.00001  dbSNP: rs760750012
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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) RCV000735158 SCV000863359 likely pathogenic not provided 2018-09-17 criteria provided, single submitter clinical testing
Invitae RCV000735158 SCV003524826 pathogenic not provided 2023-12-19 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 517 of the ABCB11 protein (p.Arg517His). This variant is present in population databases (rs760750012, gnomAD 0.008%). This missense change has been observed in individual(s) with cholestasis (PMID: 16641580, 27050426). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 598701). 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) performed at Invitae indicates that this missense variant is expected to disrupt ABCB11 protein function with a positive predictive value of 95%. Experimental studies have shown that this missense change affects ABCB11 function (PMID: 19101985). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000735158 SCV004036367 likely pathogenic not provided 2023-03-24 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 19101985, 16641580, 24644547, 18395098, 27706244, 27050426)
Baylor Genetics RCV003465671 SCV004214375 likely pathogenic Benign recurrent intrahepatic cholestasis type 2 2023-01-10 criteria provided, single submitter clinical testing

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