ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.1167_1181delinsTTCCAATGGCC (p.Trp389fs) (rs672601248)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169138 SCV000220356 likely pathogenic Biotinidase deficiency 2014-05-28 criteria provided, single submitter literature only
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000728443 SCV000856021 pathogenic not provided 2017-07-25 criteria provided, single submitter clinical testing
Invitae RCV000169138 SCV001421739 pathogenic Biotinidase deficiency 2019-10-02 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the BTD gene (p.Trp409Cysfs*91). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 135 amino acids of the BTD protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be homozygous in an individual affected with biotinidase deficiency (PMID: 8894703). ClinVar contains an entry for this variant (Variation ID: 188805). 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. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000169138 SCV000022131 pathogenic Biotinidase deficiency 1996-10-01 no assertion criteria provided literature only
Research and Development, ARUP Laboratories RCV000169138 SCV000042662 pathogenic Biotinidase deficiency 2017-02-17 no assertion criteria provided literature only

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