ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.304A>G (p.Arg102Gly) (rs397514354)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755882 SCV000883527 uncertain significance not provided 2018-04-27 criteria provided, single submitter clinical testing The BTD c.364A>G; p.Arg122Gly variant (rs397514354) is reported in the literature in an individual who was compound heterozygous and affected with profound biotinidase deficiency (Norrgard 1999). This variant is absent from the general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. The arginine at codon 122 is highly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. However, due to limited information, the clinical significance of the p.Arg122Gly variant is uncertain at this time. REFERENCES Norrgard KJ et al. Mutations causing profound biotinidase deficiency in children ascertained by newborn screening in the United States occur at different frequencies than in symptomatic children. Pediatr Res. 1999 Jul;46(1):20-7.
Counsyl RCV000021920 SCV000800689 uncertain significance Biotinidase deficiency 2018-04-02 criteria provided, single submitter clinical testing
Research and Development, ARUP Laboratories RCV000021920 SCV000042589 pathogenic Biotinidase deficiency 2017-02-17 no assertion criteria provided literature only

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