ClinVar Miner

Submissions for variant NM_000709.4(BCKDHA):c.63C>T (p.Ala21=)

gnomAD frequency: 0.00038  dbSNP: rs140322984
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000302671 SCV000413337 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.
Invitae RCV000302671 SCV001054829 likely benign Maple syrup urine disease 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001544681 SCV001763856 likely benign not provided 2019-06-20 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000302671 SCV002033639 likely benign Maple syrup urine disease 2021-11-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275905 SCV001461583 likely benign Maple syrup urine disease type 1A 2020-09-16 no assertion criteria provided clinical testing

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