ClinVar Miner

Submissions for variant NM_183050.4(BCKDHB):c.885del (p.Gly296fs)

dbSNP: rs398124599
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001240186 SCV001413111 pathogenic Maple syrup urine disease 2023-11-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly296Glufs*9) in the BCKDHB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BCKDHB are known to be pathogenic (PMID: 16786533, 22593002). This variant is present in population databases (rs398124599, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with BCKDHB-related conditions. ClinVar contains an entry for this variant (Variation ID: 96616). For these reasons, this variant has been classified as Pathogenic.
Elsea Laboratory, Baylor College of Medicine RCV001240186 SCV001424185 uncertain significance Maple syrup urine disease 2020-04-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001240186 SCV002033123 likely pathogenic Maple syrup urine disease 2021-11-07 criteria provided, single submitter clinical testing
Baylor Genetics RCV004566971 SCV004215940 pathogenic Maple syrup urine disease type 1A 2024-02-29 criteria provided, single submitter clinical testing

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