ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.364C>A (p.Pro122Thr) (rs397514357)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000021923 SCV000796708 likely pathogenic Biotinidase deficiency 2017-12-28 criteria provided, single submitter clinical testing
GeneDx RCV000438885 SCV000521148 likely pathogenic not provided 2016-11-10 criteria provided, single submitter clinical testing The P142T pathogenic variant in the BTD gene has been reported previously in the compound heterozygous and homozygous states in individuals with biotinidase deficiency (Sarafoglou et al., 2009; Gannavarapu et al., 2015). The P142T variant is not observed in large population cohorts (Lek et al., 2016; Exome Variant Server). The P142T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. The P142T variant is a strong candidate for a pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded.
Research and Development, ARUP Laboratories RCV000021923 SCV000042592 pathogenic Biotinidase deficiency 2017-02-17 no assertion criteria provided literature only

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