ClinVar Miner

Submissions for variant NM_000443.4(ABCB4):c.430C>T (p.Arg144Ter)

gnomAD frequency: 0.00001  dbSNP: rs72552780
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rolfs Rare Disease Consulting, Rolfs Consulting Und Verwaltungs GmbH RCV003485521 SCV004232493 pathogenic Progressive familial intrahepatic cholestasis type 3 2022-01-01 criteria provided, single submitter clinical testing
Invitae RCV003556020 SCV004294485 pathogenic not provided 2023-06-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 13696). This premature translational stop signal has been observed in individual(s) with ABCB4-related conditions (PMID: 12624161, 26153658). This variant is present in population databases (rs72552780, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Arg144*) in the ABCB4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ABCB4 are known to be pathogenic (PMID: 17726488, 25755532).
OMIM RCV000014695 SCV000034950 pathogenic Cholestasis, intrahepatic, of pregnancy, 3 2009-10-01 no assertion criteria provided literature only

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