ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.1279C>T (p.His427Tyr)

dbSNP: rs397514418
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000022008 SCV000792876 likely pathogenic Biotinidase deficiency 2017-07-19 criteria provided, single submitter clinical testing
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV000022008 SCV002053929 pathogenic Biotinidase deficiency criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV000022008 SCV004293426 pathogenic Biotinidase deficiency 2023-04-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt BTD protein function. ClinVar contains an entry for this variant (Variation ID: 25083). This missense change has been observed in individual(s) with biotinidase deficiency (PMID: 18645204, 21907891). This variant is present in population databases (rs397514418, gnomAD 0.003%). This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 447 of the BTD protein (p.His447Tyr).

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