ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.527del (p.Thr176fs) (rs1553653680)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000633683 SCV000754946 pathogenic Biotinidase deficiency 2017-10-07 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the BTD gene (p.Thr196Lysfs*68). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 348 amino acids (64%) of the BTD protein. This variant is not present in population databases (ExAC no frequency). This variant has been reported in combination with another pathogenic BTD variant in an individual affected with biotinidase deficiency (PMID: 22698809). A different truncation downstream of this variant (p.Ser311Argfs*23) has been determined to be pathogenic (PMID: 9396567, 10400129, 12359137, 17185019, 22698809, 25174816). This suggests that deletion of this region of the BTD protein is causative of disease. For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000633683 SCV000791041 likely pathogenic Biotinidase deficiency 2017-04-25 criteria provided, single submitter clinical testing

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