ClinVar Miner

Submissions for variant NM_003742.4(ABCB11):c.3687T>G (p.Ile1229Met)

gnomAD frequency: 0.00001  dbSNP: rs780956310
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV001733603 SCV001984279 uncertain significance Progressive familial intrahepatic cholestasis type 2 2019-12-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003910991 SCV004720203 uncertain significance ABCB11-related disorder 2023-12-06 no assertion criteria provided clinical testing The ABCB11 c.3687T>G variant is predicted to result in the amino acid substitution p.Ile1229Met. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.013% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-169781245-A-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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