ClinVar Miner

Submissions for variant NM_000709.4(BCKDHA):c.116C>A (p.Pro39His)

gnomAD frequency: 0.07892  dbSNP: rs11549936
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD LLC (GA) RCV000079222 SCV000111092 benign not specified 2013-08-17 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000079222 SCV000305434 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000396713 SCV000413339 likely benign 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000586142 SCV000697538 benign not provided 2017-02-08 criteria provided, single submitter clinical testing Variant summary: The BCKDHA c.116C>A (p.Pro39His) variant involves the alteration of a non-conserved nucleotide. 3/4 in silico tools predict a benign outcome for this variant (SNPs&GO not captured due to low reliability index). This variant was found in 11936/121154 control chromosomes (711 homozygotes) at a frequency of 0.0985192, which is approximately 59 times the estimated maximal expected allele frequency of a pathogenic BCKDHA variant (0.0016771), suggesting this variant is likely a benign polymorphism. This variant has been reported in multiple affected individuals who also carried other variants in BCKDHB that can explain the phenotype, and authors interpreted the variant of interest as silent variant. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign. Taken together, this variant is classified as benign.
Invitae RCV000396713 SCV001717945 benign Maple syrup urine disease 2021-12-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000396713 SCV001738136 benign Maple syrup urine disease 2021-06-10 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000079222 SCV000150424 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Natera, Inc. RCV001275908 SCV001461587 benign Maple syrup urine disease type 1A 2020-09-16 no assertion criteria provided clinical testing

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