ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.1247_1248del (p.Glu416fs)

dbSNP: rs1057517225
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000411441 SCV004211436 likely pathogenic Biotinidase deficiency 2023-08-11 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV004999364 SCV005625376 likely pathogenic not provided 2024-07-17 criteria provided, single submitter clinical testing The BTD c.1307_1308del (p.Glu436Alafs*8) variant alters the translational reading frame of the BTD mRNA and is predicted to cause the premature termination of BTD protein synthesis. This variant has not been reported in individuals with BTD-related conditions in the published literature. This variant has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Based on the available information, this variant is classified as likely pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV000411441 SCV005729087 pathogenic Biotinidase deficiency 2024-11-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu436Alafs*8) in the BTD gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 108 amino acid(s) of the BTD protein. 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. This variant disrupts a region of the BTD protein in which other variant(s) (p.Asp543Glu) have been determined to be pathogenic (PMID: 25174816, 25967232, 28498829). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000411441 SCV000486941 likely pathogenic Biotinidase deficiency 2016-09-09 no assertion criteria provided clinical testing This submission and the accompanying classification are no longer maintained by the submitter. For more information on current observations and classification, please contact variantquestions@myriad.com.

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