ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.806C>T (p.Ala269Val)

dbSNP: rs1057520533
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000428786 SCV000515923 likely pathogenic not provided 2023-08-27 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Also known as p.(A289V) using alternate nomenclature; This variant is associated with the following publications: (PMID: 26810761, 27657684, 10400129, 22698809, Sharma2021[Poster])
Labcorp Genetics (formerly Invitae), Labcorp RCV000675056 SCV002261716 likely pathogenic Biotinidase deficiency 2021-10-27 criteria provided, single submitter clinical testing 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. This variant disrupts the p.Ala289 amino acid residue in BTD. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 10400129, 26810761, 27657684; Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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"). ClinVar contains an entry for this variant (Variation ID: 379232). This missense change has been observed in individual(s) with biotinidase deficiency (PMID: 22698809). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, a(n) neutral and non-polar amino acid, with valine, a(n) neutral and non-polar amino acid, at codon 289 of the BTD protein (p.Ala289Val).
Baylor Genetics RCV000675056 SCV005059967 likely pathogenic Biotinidase deficiency 2024-02-26 criteria provided, single submitter clinical testing
Counsyl RCV000675056 SCV000800511 uncertain significance Biotinidase deficiency 2017-03-29 flagged submission clinical testing
Natera, Inc. RCV000675056 SCV002081564 likely pathogenic Biotinidase deficiency 2021-10-01 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.