ClinVar Miner

Submissions for variant NM_000709.4(BCKDHA):c.648G>T (p.Ala216=)

dbSNP: rs114716391
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000280567 SCV000413351 benign Maple syrup urine disease 2018-01-12 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 RCV000755845 SCV000512252 benign not provided 2019-04-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755845 SCV000883448 benign not provided 2018-01-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000280567 SCV001015308 benign Maple syrup urine disease 2024-01-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002356449 SCV002655511 likely benign Inborn genetic diseases 2022-06-14 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Breakthrough Genomics, Breakthrough Genomics RCV000755845 SCV005307432 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001828324 SCV002088150 benign Maple syrup urine disease type 1A 2019-10-21 no assertion criteria provided clinical testing

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