ClinVar Miner

Submissions for variant NM_000392.5(ABCC2):c.4179G>T (p.Met1393Ile)

gnomAD frequency: 0.00002  dbSNP: rs779736415
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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) RCV000177443 SCV000229301 uncertain significance not provided 2018-01-29 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003989494 SCV004807071 uncertain significance Dubin-Johnson syndrome 2024-03-26 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003989494 SCV005077418 likely pathogenic Dubin-Johnson syndrome 2024-04-05 criteria provided, single submitter clinical testing Variant summary: ABCC2 c.4179G>T (p.Met1393Ile) results in a conservative amino acid change located in the ABC transporter-like, ATP-binding domain (IPR003439) of the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 2.8e-05 in 251452 control chromosomes (gnomAD). c.4179G>T has been reported in the literature in individuals affected with Dubin-Johnson Syndrome (Khabou_2021). These data indicate that the variant is likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 33713692). ClinVar contains an entry for this variant (Variation ID: 196610). Based on the evidence outlined above, the variant was classified as likely pathogenic.

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