ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.383G>A (p.Arg128His) (rs367902696)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000490188 SCV000576611 likely pathogenic not provided 2017-04-25 criteria provided, single submitter clinical testing The R148H variant in the BTD gene has been reported previously along with a second missense variant, in a female with decreased plasma biotinidase activity (Ohlsson et al., 2010). The R148H variant is observed in 2/10266 (0.02%) alleles from individuals of African background, in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R148H variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Missense variants in nearby residues (C143F, F149L, T152P, T152R) have been reported in the Human Gene Mutation Database in association with Biotinidase deficiency (Stenson et al., 2014), supporting the functional importance of this region of the protein. We interpret R148H as a likely pathogenic variant.
Fulgent Genetics,Fulgent Genetics RCV000021924 SCV000894297 likely pathogenic Biotinidase deficiency 2018-10-31 criteria provided, single submitter clinical testing
Research and Development, ARUP Laboratories RCV000021924 SCV000042593 pathogenic Biotinidase deficiency 2017-02-17 no assertion criteria provided literature only
Counsyl RCV000021924 SCV001132347 uncertain significance Biotinidase deficiency 2019-05-17 no assertion criteria provided clinical testing

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