ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.604G>A (p.Asp202Asn) (rs200337373)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000675128 SCV000800698 uncertain significance Biotinidase deficiency 2018-04-18 criteria provided, single submitter clinical testing
GeneDx RCV000420327 SCV000521149 likely pathogenic not provided 2015-11-25 criteria provided, single submitter clinical testing The D222N variant in the BTD gene has been reported previously in biotinidase deficiency, in anaffected individual with reduced biotinidase activity, however no second variant was identified(Borsatto et al., 2014). The D222N variant was not observed at any significant frequency inapproximately 6,500 individuals of European and African American ancestry in the NHLBI ExomeSequencing Project, indicating it is not a common benign variant in these populations. The D222Nvariant is a semi-conservative amino acid substitution, which may impact secondary protein structureas these residues differ in some properties. This substitution occurs at a position that is conserved inmammals. In silico analysis is inconsistent in its predictions as to whether or not the variant isdamaging to the protein structure/function. Missense variants in nearby residues (E218D, E218Q)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. The D222Nvariant is a strong candidate for a pathogenic variant, however the possibility it may be a rare benignvariant cannot be excluded.

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