ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.1333G>T (p.Gly445Cys) (rs746099217)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000675116 SCV000800670 uncertain significance Biotinidase deficiency 2018-03-07 criteria provided, single submitter clinical testing
GeneDx RCV000483575 SCV000565969 likely pathogenic not provided 2015-03-12 criteria provided, single submitter clinical testing The G465C variant has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. The G465C 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. Missense variants in nearby residues (C463Y) have been reported in the Human Gene Mutation Database in association with biotinidase deficiency (Stenson et al., 2014), supporting the functional importance of this region of the protein. Therefore, the G465C variant is a strong candidate for a pathogenic variant, however the possibility that it is a benign variant cannot be excluded.

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