ClinVar Miner

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

dbSNP: rs397514333
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Total submissions: 6
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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
Invitae 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

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