ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.1151C>T (p.Thr384Ile) (rs397514405)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000021990 SCV000800618 uncertain significance Biotinidase deficiency 2017-11-14 criteria provided, single submitter clinical testing
Invitae RCV000021990 SCV000940989 uncertain significance Biotinidase deficiency 2018-08-15 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 404 of the BTD protein (p.Thr404Ile). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with biotinidase deficiency (PMID: 21752405). ClinVar contains an entry for this variant (Variation ID: 25065). 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"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759002 SCV000888007 pathogenic not provided 2015-12-22 criteria provided, single submitter clinical testing
Research and Development, ARUP Laboratories RCV000021990 SCV000042660 pathogenic Biotinidase deficiency 2017-02-17 no assertion criteria provided literature only

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