ClinVar Miner

Submissions for variant NM_183050.4(BCKDHB):c.1159C>T (p.Arg387Ter) (rs751599203)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671826 SCV000796849 uncertain significance Maple syrup urine disease 2018-01-05 criteria provided, single submitter clinical testing
Mendelics RCV000671826 SCV001137189 pathogenic Maple syrup urine disease 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000671826 SCV001580943 pathogenic Maple syrup urine disease 2020-10-21 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the BCKDHB gene (p.Arg387*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 6 amino acids of the BCKDHB protein. This variant is present in population databases (rs751599203, ExAC 0.02%). This variant has been observed in combination with another BCKDHB variant in several individuals affected with maple syrup urine disease (PMID: 30228974, Invitae). ClinVar contains an entry for this variant (Variation ID: 555909). For these reasons, this variant has been classified as Pathogenic.
SingHealth Duke-NUS Institute of Precision Medicine RCV000671826 SCV000853150 uncertain significance Maple syrup urine disease 2017-06-07 no assertion criteria provided curation

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