ClinVar Miner

Submissions for variant NM_000709.4(BCKDHA):c.452C>T (p.Thr151Met) (rs34442879)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000079243 SCV000111113 benign not specified 2013-02-26 criteria provided, single submitter clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000079243 SCV000296955 benign not specified 2015-09-02 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000079243 SCV000305438 likely benign not specified 2016-04-18 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000295914 SCV000413348 benign Maple syrup urine disease 2018-03-06 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000295914 SCV000602630 benign Maple syrup urine disease 2019-06-21 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000295914 SCV000743924 likely benign Maple syrup urine disease 2015-12-18 criteria provided, single submitter clinical testing
SIB Swiss Institute of Bioinformatics RCV000079243 SCV000803448 benign not specified 2018-05-31 criteria provided, single submitter curation This variant is interpreted as a Benign - Stand Alone. The following ACMG Tag(s) were applied: BA1 => Allele frequency is >1% in Exome Aggregation Consortium. BCKDHA mutations are responsible for Maple syrup urine disease but it is not known if this variant has been ever seen in patients.
Broad Institute Rare Disease Group, Broad Institute RCV000295914 SCV001435208 likely benign Maple syrup urine disease criteria provided, single submitter research The heterozygous p.Thr151Met variant, sometimes called p.Thr106Met due to a difference in cDNA numbering, in BCKDHA has been identified in a Turkish individual with maple syrup urine disease (PMID: 12118532), but has also been identified in >2% of European (Finnish) chromosomes and 9 homozygotes in ExAC (http://gnomad.broadinstitute.org/). In summary, although additional studies are required to fully establish its clinical significance, this variant meets criteria to be classified as likely benign for autosomal recessive maple syrup urine disease.
Invitae RCV000295914 SCV001728176 benign Maple syrup urine disease 2020-12-04 criteria provided, single submitter clinical testing
GeneDx RCV001705729 SCV001881802 benign not provided 2018-12-05 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 32193832, 31119508, 26990548, 14517957, 27535533, 27884173, 12118532, 21228398, 20981092, 22995991, 25087612)
Natera, Inc. RCV001273305 SCV001456201 benign Maple syrup urine disease type 1A 2020-06-03 no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV001705729 SCV001926140 likely benign not provided no assertion criteria provided clinical testing

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