ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.68A>G (p.His23Arg) (rs146011150)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Research and Development, ARUP Laboratories RCV000022030 SCV000042705 uncertain significance Biotinidase deficiency 2017-02-17 criteria provided, single submitter clinical testing No enzyme activity available. Seen with c.1330G>C,p.D444H.
Invitae RCV000022030 SCV000943282 uncertain significance Biotinidase deficiency 2018-09-20 criteria provided, single submitter clinical testing This sequence change replaces histidine with arginine at codon 43 of the BTD protein (p.His43Arg). The histidine residue is weakly conserved and there is a small physicochemical difference between histidine and arginine. This variant is present in population databases (rs146011150, ExAC 0.05%). This variant has been observed in an individual who was newborn screening positive for biotinidase deficiency (PMID: 26810761). ClinVar contains an entry for this variant (Variation ID: 38483). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Institute of Human Genetics, University of Leipzig Medical Center RCV000022030 SCV001440042 likely benign Biotinidase deficiency 2019-01-01 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000022030 SCV000607107 not provided Biotinidase deficiency no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001251701 SCV001427442 uncertain significance Intellectual disability 2019-01-01 no assertion criteria provided clinical testing
Natera, Inc. RCV000022030 SCV001454447 uncertain significance Biotinidase deficiency 2020-02-04 no assertion criteria provided clinical testing

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