ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.281G>T (p.Gly94Val) (rs375712490)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000021918 SCV000796685 likely pathogenic Biotinidase deficiency 2017-12-28 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759007 SCV000888016 pathogenic not provided 2015-12-22 criteria provided, single submitter clinical testing
Mendelics RCV000021918 SCV001136340 pathogenic Biotinidase deficiency 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000021918 SCV001228394 pathogenic Biotinidase deficiency 2020-10-20 criteria provided, single submitter clinical testing This sequence change replaces glycine with valine at codon 114 of the BTD protein (p.Gly114Val). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and valine. This variant is present in population databases (rs375712490, ExAC 0.01%). This variant has been observed to be homozygous or in combination with another BTD variant in several individuals affected with biotinidase deficiency (PMID: 15776412, 27657684, 20083419). ClinVar contains an entry for this variant (Variation ID: 24999). 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). For these reasons, this variant has been classified as Pathogenic.
Research and Development, ARUP Laboratories RCV000021918 SCV000042587 pathogenic Biotinidase deficiency 2017-02-17 no assertion criteria provided literature only
Natera, Inc. RCV000021918 SCV001460180 pathogenic Biotinidase deficiency 2020-09-16 no assertion criteria provided clinical testing

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