ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.566G>A (p.Arg189His) (rs398123139)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000185803 SCV000602898 pathogenic not specified 2017-02-16 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000507456 SCV000109914 pathogenic not provided 2018-08-21 criteria provided, single submitter clinical testing
Invitae RCV000144058 SCV000940981 pathogenic Biotinidase deficiency 2018-08-03 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 209 of the BTD protein (p.Arg209His). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs398123139, ExAC 0.02%). This variant has been observed on the opposite chromosome (in trans) or in combination (phase unknown) from other pathogenic variants in several individuals affected with biotinidase deficiency (PMID: 24797656, 25754625, 26361991). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. ClinVar contains an entry for this variant (Variation ID: 92400). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). The observation of one or more missense substitutions at this codon (p.Arg209Cys and p.Arg209His) in affected individuals suggests that this may be a clinically significant residue (PMID: 26810761, 24797656, 25754625, 26361991). For these reasons, this variant has been classified as Pathogenic.
Molecular Genetics Diagnostic Laboratory,Detroit Medical Center University Laboratories RCV000144058 SCV000189131 pathogenic Biotinidase deficiency no assertion criteria provided clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000507456 SCV000600944 likely pathogenic not provided 2017-03-14 criteria provided, single submitter clinical testing
Research and Development, ARUP Laboratories RCV000144058 SCV000845808 pathogenic Biotinidase deficiency 2017-02-17 no assertion criteria provided literature only Enzyme activity @ 0.8 U/L. Seen with c.1368A>C;p.Q456H.

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