ClinVar Miner

Submissions for variant NM_001271696.3(ABCB7):c.1235T>C (p.Met412Thr) (rs1057518042)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000412721 SCV000491411 likely pathogenic not provided 2016-01-20 criteria provided, single submitter clinical testing The M413T variant in the ABCB7 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The M413T variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The M413T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position within the highly conserved helical transmembrane domain that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. The adjacent missense variant (V412L) has been reported in the Human Gene Mutation Database in association with ABCB7-related disorders (Stenson et al., 2014), supporting the functional importance of this region of the protein. The M413T variant is a strong candidate for a pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded.
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals RCV000578445 SCV000680125 likely pathogenic Anemia sideroblastic and spinocerebellar ataxia 2017-07-06 no assertion criteria provided clinical testing

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