ClinVar Miner

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

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Total submissions: 6
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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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985649 SCV001134044 pathogenic not provided 2019-05-20 criteria provided, single submitter clinical testing The best available variant frequency is uninformative because it is below the disease allele frequency. Found in at least one symptomatic patient. Predicted to have a damaging effect on the protein. Occurs in multiple cases with a recessive pathogenic variant in the same gene. Assessment of experimental evidence suggests this variant results in abnormal protein function.
Research and Development, ARUP Laboratories RCV000021947 SCV000042616 pathogenic Biotinidase deficiency 2017-02-17 no assertion criteria provided literature only
Natera, Inc. RCV000021947 SCV001460185 pathogenic Biotinidase deficiency 2020-09-16 no assertion criteria provided clinical testing

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