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

dbSNP: rs1057517225

Total submissions: 4

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2016-09-09	no assertion criteria provided	clinical testing	This submission and the accompanying classification are no longer maintained by the submitter.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 [e-mail].