ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.1433dup (p.Leu478fs) (rs397514425)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000022020 SCV000961005 pathogenic Biotinidase deficiency 2018-11-05 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the BTD gene (p.Leu498Phefs*13). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 46 amino acids of the BTD protein. This variant is present in population databases (rs760773815, ExAC 0.01%). This variant has been observed as homozygous or on the opposite chromosome (in trans) from other pathogenic variants in an individuals affected with biotinidase deficiency (PMID: 17382128, 29359854, 19728141). These finding are consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. ClinVar contains an entry for this variant (Variation ID: 25095). Experimental studies have shown that this frameshift change reduces biotinidase activity in-vitro (PMID: 29359854). For these reasons, this variant has been classified as Pathogenic.
Research and Development, ARUP Laboratories RCV000022020 SCV000042693 pathogenic Biotinidase deficiency 2017-02-17 no assertion criteria provided literature only

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