ClinVar Miner

Submissions for variant NM_000443.4(ABCB4):c.879del (p.Ala294fs)

dbSNP: rs1326932143
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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) RCV000733982 SCV000862090 pathogenic not provided 2018-06-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000733982 SCV003439980 pathogenic not provided 2022-05-31 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ala294Leufs*14) 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). This premature translational stop signal has been observed in individual(s) with low phospholipid associated cholelithiasis (PMID: 23533021). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 597760).
Fulgent Genetics, Fulgent Genetics RCV004776443 SCV005674289 pathogenic Progressive familial intrahepatic cholestasis type 3; Low phospholipid associated cholelithiasis; Cholestasis, intrahepatic, of pregnancy, 3 2024-02-15 criteria provided, single submitter clinical testing
Department of Genetics, Suzhou Beikang Medical Laboratory RCV004776443 SCV005387797 likely pathogenic Progressive familial intrahepatic cholestasis type 3; Low phospholipid associated cholelithiasis; Cholestasis, intrahepatic, of pregnancy, 3 2024-10-31 no assertion criteria provided clinical testing This sequence change creates a premature translational stop signal (p.Ala294Leufs*14) 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: 21841779, 26827111). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ABCB4-related conditions. ClinVar contains an entry for this variant (Variation ID: 597760). For these reasons, this variant has been classified as Likely pathogenic.

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