ClinVar Miner

Submissions for variant NM_003742.4(ABCB11):c.712G>A (p.Gly238Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004771690 SCV005382372 uncertain significance Progressive familial intrahepatic cholestasis type 2 2023-05-20 criteria provided, single submitter clinical testing The observed missense c.712G>A (p.Gly238Ser) variant in ABCB11 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Gly238Ser variant is absent in gnomAD Exomes. This variant has not been submitted to the ClinVar database. Computational evidence (Polyphen - Possibly Damaging, SIFT - Tolerated and MutationTaster - Disease causing) predicts conflicting evidence on protein structure and function for this variant. The reference amino acid of p.Gly238Ser in ABCB11 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Gly at position 238 is changed to a Ser changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as a Variant of Uncertain Significance (VUS).

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