ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.91_92del (p.Asp31fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004547219 SCV005042588 likely pathogenic Biotinidase deficiency criteria provided, single submitter clinical testing The frameshift variant c.91_92delp.Asp31ProfsTer5 in BTD gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The variant is novel not in any individuals in gnomAD Exomes and 1000 Genomes. This variant causes a frameshift starting with codon Aspartic Acid 31, changes this amino acid to Proline residue, and creates a premature Stop codon at position 5 of the new reading frame, denoted p.Asp31ProfsTer5.This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing Wolf B, et al., 2005. For these reasons, this variant has been classified as Likely Pathogenic.

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