ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.535G>A (p.Val179Met) (rs397514375)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000021947 SCV000486980 likely pathogenic Biotinidase deficiency 2016-09-16 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000021947 SCV000894298 likely pathogenic Biotinidase deficiency 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000021947 SCV000945610 pathogenic Biotinidase deficiency 2018-08-07 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 199 of the BTD protein (p.Val199Met). The valine residue is highly conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs397514375, ExAC 0.001%). This variant has been observed in combination with another BTD variant in an individuals affected with partial or profound biotinidase deficiency (PMID: 12359137, 28498829, 15060693, 25174816,25144890, 17185019). ClinVar contains an entry for this variant (Variation ID: 25026). 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 RCV000021947 SCV000042616 pathogenic Biotinidase deficiency 2017-02-17 no assertion criteria provided literature only

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