ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.920dup (p.Asn307fs)

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Total submissions: 1
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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 RCV002510473 SCV002819928 likely pathogenic Biotinidase deficiency 2022-12-31 criteria provided, single submitter clinical testing Variant summary: BTD c.920dupA (p.Asn307LysfsX27) results in a premature termination codon and is predicted to cause a truncation of the encoded protein, which is a commonly known mechanism for disease. Truncations downstream of this position have been classified as pathogenic within ClinVar (e.g. c.932_941del [p.His311fs], c.1025T>A [p.Leu342Ter]). The variant was absent in 251338 control chromosomes (gnomAD). To our knowledge, no occurrence of c.920dupA in individuals affected with Biotinidase Deficiency and no experimental evidence demonstrating its impact on protein function have been reported. 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 likely pathogenic.

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