ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.359G>A (p.Trp120Ter)

dbSNP: rs2125486425
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001381017 SCV001579268 pathogenic Biotinidase deficiency 2020-01-02 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the C-terminus of the BTD protein. Other variant(s) that disrupt this region (p.Leu498Phefs*13) have been determined to be pathogenic (PMID: 17382128, 29359854, 19728141). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. This variant has been observed in individuals with a positive newborn screening result for BTD-related disease (PMID: 29353266) This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the BTD gene (p.Trp140*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 404 amino acids of the BTD protein.
Baylor Genetics RCV001381017 SCV004211474 pathogenic Biotinidase deficiency 2023-03-09 criteria provided, single submitter clinical testing

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