ClinVar Miner

Submissions for variant NM_000443.4(ABCB4):c.2211G>A (p.Ala737=)

gnomAD frequency: 0.00001  dbSNP: rs763404399
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000729603 SCV000857277 uncertain significance not provided 2017-10-03 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV003130028 SCV003808059 uncertain significance Progressive familial intrahepatic cholestasis type 3 2022-04-20 criteria provided, single submitter clinical testing ACMG classification criteria: BP7 supporting
Invitae RCV000729603 SCV004695713 uncertain significance not provided 2024-01-26 criteria provided, single submitter clinical testing This sequence change affects codon 737 of the ABCB4 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the ABCB4 protein. This variant also falls at the last nucleotide of exon 17, which is part of the consensus splice site for this exon. This variant is present in population databases (rs763404399, gnomAD 0.004%). This variant has been observed in individual(s) with ABCB4-related conditions (PMID: 33390354). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 594341). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). 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.

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