ClinVar Miner

Submissions for variant NM_183050.4(BCKDHB):c.51A>C (p.Ala17=)

dbSNP: rs376293687
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000327459 SCV000332078 uncertain significance not provided 2015-06-10 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000269861 SCV000465662 uncertain significance 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx RCV000327459 SCV000983498 likely benign not provided 2018-04-17 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.
Invitae RCV000269861 SCV001031313 benign Maple syrup urine disease 2024-01-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000269861 SCV002033040 likely benign Maple syrup urine disease 2021-11-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV001828179 SCV002077418 likely benign Maple syrup urine disease type 1B 2019-10-24 no assertion criteria provided clinical testing

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