ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.1350dup (p.Cys451fs) (rs886041559)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411318 SCV000486858 likely pathogenic Biotinidase deficiency 2016-08-24 criteria provided, single submitter clinical testing
GeneDx RCV000296640 SCV000330236 pathogenic not provided 2016-02-13 criteria provided, single submitter clinical testing The c.1410dupC variant in the BTD gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1410dupC variant causes a frameshift starting with codon Cysteine 471, changes this amino acid to a Leucine residue, and creates a premature Stop codon at position 13 of the new reading frame, denoted p.Cys471LeufsX13. This variant is predicted to cause loss of normal protein function through protein truncation. The c.1410dupC variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.1410dupC as a pathogenic variant.

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