ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.38G>T (p.Cys13Phe)

gnomAD frequency: 0.00012  dbSNP: rs141131444
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000987126 SCV001136333 uncertain significance Biotinidase deficiency 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000998006 SCV001153814 uncertain significance not provided 2018-12-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000987126 SCV003301955 uncertain significance Biotinidase deficiency 2021-09-15 criteria provided, single submitter clinical testing This sequence change replaces cysteine with phenylalanine at codon 33 of the BTD protein (p.Cys33Phe). The cysteine residue is weakly conserved and there is a large physicochemical difference between cysteine and phenylalanine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This missense change has been observed in individual(s) with biotinidase deficiency (PMID: 26117549). 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 phenylalanine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000998006 SCV005625383 uncertain significance not provided 2023-11-03 criteria provided, single submitter clinical testing The BTD c.98G>T (p.Cys33Phe) variant has been reported in the published literature in a homozygous individual with biotinidase deficiency (PMID: 26117549 (2015)). Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is benign. Based on the available information, we are unable to determine the clinical significance of this variant.

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