ClinVar Miner

Submissions for variant NM_000060.2(BTD):c.[1207T>G;1330G>C]

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000001981 SCV001748683 pathogenic Biotinidase deficiency 2021-06-29 criteria provided, single submitter clinical testing Variant summary: BTD c.[1147T>G;1270G>C] (p.[Phe383Val;Asp424His]) variant, also known as c.[1207T>G;1330G>C] (p.[Phe403Val;Asp444His]), is a complex allele and involves the alteration of multiple nucleotides. The allele frequency of this complex variant could not be determined from large population databases such as gnomAD because the individual variants of the complex have variable frequencies and the exact number of alleles representing a combination of the two in cis is unknown. However, based on the frequency of the least prevalent allele, namely c.1147T>G, it can be estimated that the complex variant allele will be found at a frequency not to exceed 1.6e-05 in 251384 control chromosomes. This variant frequency is not higher than expected for a pathogenic variant in BTD causing Biotinidase Deficiency phenotype (0.0046). c.[1147T>G;1270G>C] has been reported in the literature in individuals affected with Biotinidase Deficiency (e.g. Norrgard_1999, Hesermann_2012, Al Hosani_2014, Haines_2014, Jay_2015). Importantly, patients homozygous for this complex variant were all reported with profound Biotinidase Deficiency and markedly reduced or absent enzyme activity (e.g. Norrgard_1999, Hesermann_2012, Haines_2014). These data indicate that the variant is very likely to be associated with disease. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic.
OMIM RCV000001981 SCV000022139 pathogenic Biotinidase deficiency 1999-07-01 no assertion criteria provided literature only
Research and Development, ARUP Laboratories RCV000001981 SCV000042659 pathogenic Biotinidase deficiency 2012-12-04 no assertion criteria provided clinical testing Converted during submission to Pathogenic.

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