ClinVar Miner

Submissions for variant NM_000443.4(ABCB4):c.263C>G (p.Thr88Ser)

gnomAD frequency: 0.00001  dbSNP: rs1417236795
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000731015 SCV000620075 uncertain significance not provided 2017-08-31 criteria provided, single submitter clinical testing The T88S variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The T88S variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The T88S variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved. In silico analysis predicts this variant likely does not alter the protein structure/function. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Eurofins Ntd Llc (ga) RCV000731015 SCV000858785 uncertain significance not provided 2017-12-20 criteria provided, single submitter clinical testing

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