ClinVar Miner

Submissions for variant NM_183050.4(BCKDHB):c.82_92GGCGCGGGGCT[3] (p.Phe35fs) (rs398124601)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169513 SCV000220982 likely pathogenic Maple syrup urine disease 2014-12-23 criteria provided, single submitter literature only
Integrated Genetics/Laboratory Corporation of America RCV000589099 SCV000700013 likely pathogenic Maple syrup urine disease type 1B 2017-08-07 criteria provided, single submitter clinical testing Variant summary: The BCKDHB c.93_103dup11 (c.93_103dupGGCGCGGGGCT/p.Phe35Trpfs) variant results in a premature termination codon, predicted to cause a truncated or absent BCKDHB protein due to nonsense mediated decay, which are commonly known mechanisms for disease. One in silico tool predicts a damaging outcome for this variant. This variant is reported as 6:80816489 C / CCTGGCGCGGGG in ExAC and is absent in 27180 control chromosomes. In addition,one other clinical diagnostic laboratory classified this variant as likely pathogenic. Taken together, this variant is classified as likely pathogenic.

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