ClinVar Miner

Submissions for variant NM_002225.5(IVD):c.707C>T (p.Thr236Ile) (rs146861563)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674322 SCV000799641 uncertain significance Isovaleryl-CoA dehydrogenase deficiency 2018-04-30 criteria provided, single submitter clinical testing
GeneDx RCV000275647 SCV000330834 likely pathogenic not provided 2017-10-11 criteria provided, single submitter clinical testing The T239I variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The T239I variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). The T239I 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 that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. In summary, the T239I variant is a strong candidate for a pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded.

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