ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.1395C>G (p.His465Gln) (rs201604102)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000022015 SCV000800642 uncertain significance Biotinidase deficiency 2017-12-28 criteria provided, single submitter clinical testing
Invitae RCV000022015 SCV000832890 likely pathogenic Biotinidase deficiency 2018-05-25 criteria provided, single submitter clinical testing This sequence change replaces histidine with glutamine at codon 485 of the BTD protein (p.His485Gln). The histidine residue is moderately conserved and there is a small physicochemical difference between histidine and glutamine. This variant is present in population databases (rs201604102, ExAC 0.02%). This variant has been observed as homozygous or in combination with a BTD pathogenic variant in individuals affected with profound biotinidase deficiency (PMID: 25967232, 26810761). ClinVar contains an entry for this variant (Variation ID: 25090). 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 tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Research and Development, ARUP Laboratories RCV000022015 SCV000042687 pathogenic Biotinidase deficiency 2017-02-17 criteria provided, single submitter clinical testing Enzyme activity @ 0.7 U/L. Seen with a complex mutation [c.1330G>C,c.511G>A; p.D444H,p.A171T]

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