ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser) (rs138818907)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000078068 SCV000609763 pathogenic not provided 2017-05-09 criteria provided, single submitter clinical testing
Counsyl RCV000022019 SCV000796643 likely pathogenic Biotinidase deficiency 2017-12-21 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078068 SCV000230005 pathogenic not provided 2012-09-10 criteria provided, single submitter clinical testing
GeneDx RCV000078068 SCV000490443 pathogenic not provided 2016-01-04 criteria provided, single submitter clinical testing The P497S pathogenic variant in the BTD gene has been reported many times in patients with profound biotinidase deficiency when in the homozygous state or when present with a second variant associated with profound biotinidase deficiency (Karaca et al. 2015; Sarafoglou et al. 2009; Norrgard et al. 1999).
Invitae RCV000022019 SCV000630329 pathogenic Biotinidase deficiency 2017-06-14 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 497 of the BTD protein (p.Pro497Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine. This variant is present in population databases (rs138818907, ExAC 0.02%). This variant has been reported as homozygous or in combination with another BTD variant in individuals affected with profound biotinidase deficiency (PMID: 10400129, 26361991, 20224900, 15776412, 19757147, 25754625, 26810761) and in combination with other variants in individuals with partial biotinidase deficiency (PMID: 10400129, 20224900). ClinVar contains an entry for this variant (Variation ID: 25094). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. For these reasons, this variant has been classified as Pathogenic.
Research and Development, ARUP Laboratories RCV000022019 SCV000042692 pathogenic Biotinidase deficiency 2017-02-17 no assertion criteria provided literature only

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