Submissions for variant NM_001370658.1(BTD):c.152T>C (p.Leu51Pro)

dbSNP: rs397514333

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000427971	SCV000521147	likely benign	not specified	2016-11-09	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago	RCV000427971	SCV000593787	uncertain significance	not specified	2015-11-12	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000021900	SCV000754950	benign	Biotinidase deficiency	2024-01-11	criteria provided, single submitter	clinical testing
Counsyl	RCV000021900	SCV000800810	likely benign	Biotinidase deficiency	2018-04-20	criteria provided, single submitter	clinical testing
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	RCV000021900	SCV001435233	benign	Biotinidase deficiency		criteria provided, single submitter	research	The heterozygous p.Leu71Pro variant in BTD has been identified in the compound heterozygous state, in trans with a frameshift variant and in cis with a rare missense variant, in an individual from Hungary with biotinidase deficiency (PMID: 14707518). This variant has also been identified in >1% of South Asian chromosomes and 8 homozygotes by ExAC (http://gnomad.broadinstitute.org/). In summary, this variant meets criteria to be classified as benign for autosomal recessive biotinidase deficiency.
Natera, Inc.	RCV000021900	SCV002081544	benign	Biotinidase deficiency	2020-01-14	no assertion criteria provided	clinical testing