ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.838A>C (p.Asn280His) (rs587783006)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000494587 SCV000582964 likely pathogenic not provided 2016-03-07 criteria provided, single submitter clinical testing The N300H 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 N300H variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some 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 N300H variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.
Molecular Genetics Diagnostic Laboratory,Detroit Medical Center University Laboratories RCV000144061 SCV000189134 pathogenic Biotinidase deficiency no assertion criteria provided clinical testing
Research and Development, ARUP Laboratories RCV000144061 SCV000845822 pathogenic Biotinidase deficiency 2017-02-17 no assertion criteria provided literature only Enzyme activity @ 1.9 U/L. Seen with c.1330G>C;p.D444H.

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