ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.256C>T (p.Gln86Ter)

dbSNP: rs1553653062
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669656 SCV000794432 likely pathogenic Biotinidase deficiency 2017-09-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000669656 SCV001810306 likely pathogenic Biotinidase deficiency 2021-07-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000669656 SCV004336326 pathogenic Biotinidase deficiency 2023-10-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln106*) in the BTD gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BTD are known to be pathogenic (PMID: 20083419). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BTD-related conditions. ClinVar contains an entry for this variant (Variation ID: 554090). For these reasons, this variant has been classified as Pathogenic.

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