Submissions for variant NM_001370658.1(BTD):c.41_44del (p.Gly14fs)

dbSNP: rs1249246307

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000778682	SCV000915025	likely pathogenic	Biotinidase deficiency	2024-04-24	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001090471	SCV001246038	pathogenic	not provided	2018-12-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000778682	SCV001587423	pathogenic	Biotinidase deficiency	2024-08-19	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Gly34Valfs*35) 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 premature translational stop signal has been observed in individual(s) with biotinidase deficiency (PMID: 7550325, 27657684, 27845546, 28220409; Invitae). ClinVar contains an entry for this variant (Variation ID: 631911). For these reasons, this variant has been classified as Pathogenic.
Arcensus	RCV000778682	SCV002564587	likely pathogenic	Biotinidase deficiency	2013-02-01	criteria provided, single submitter	clinical testing