ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.176G>A (p.Arg59His) (rs397514343)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000021905 SCV000800614 uncertain significance Biotinidase deficiency 2017-11-14 criteria provided, single submitter clinical testing
Invitae RCV000021905 SCV001411319 likely pathogenic Biotinidase deficiency 2019-09-15 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 79 of the BTD protein (p.Arg79His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs397514343, ExAC 0.006%). This variant has been observed in individual(s) with biotinidase deficiency (PMID: 14707518). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 38564, 38567). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Probably Damaging; Align-GVGD: Class C0). This variant disrupts the p.Arg79 amino acid residue in BTD. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 10801053, 27845546, 29359854, 15060693). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Research and Development, ARUP Laboratories RCV000021905 SCV000042574 pathogenic Biotinidase deficiency 2017-02-17 no assertion criteria provided literature only

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