ClinVar Miner

Submissions for variant NM_000709.4(BCKDHA):c.1251C>T (p.Pro417=)

gnomAD frequency: 0.00021  dbSNP: rs147021347
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000723905 SCV000202245 uncertain significance not provided 2014-02-27 criteria provided, single submitter clinical testing
GeneDx RCV000723905 SCV000718195 likely benign not provided 2021-02-24 criteria provided, single submitter clinical testing
Invitae RCV001084720 SCV001095672 likely benign Maple syrup urine disease 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001084720 SCV001293228 uncertain significance Maple syrup urine disease 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CeGaT Center for Human Genetics Tuebingen RCV000723905 SCV001747226 likely benign not provided 2021-06-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001084720 SCV002032985 likely benign Maple syrup urine disease 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV003162622 SCV003858230 likely benign Inborn genetic diseases 2023-03-03 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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.