ClinVar Miner

Submissions for variant NM_000709.4(BCKDHA):c.484+5G>A

gnomAD frequency: 0.00298  dbSNP: rs149899007
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000079244 SCV000111114 benign not specified 2015-10-20 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000315833 SCV000413349 benign Maple syrup urine disease 2018-01-13 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.
GeneDx RCV000079244 SCV000515804 benign not specified 2016-02-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514452 SCV000610262 benign not provided 2017-06-16 criteria provided, single submitter clinical testing
Invitae RCV000315833 SCV000627803 benign Maple syrup urine disease 2024-02-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003905047 SCV004726833 benign BCKDHA-related condition 2021-10-13 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001275912 SCV001461591 benign Maple syrup urine disease type 1A 2020-09-16 no assertion criteria provided clinical testing

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