ClinVar Miner

Submissions for variant NM_000709.4(BCKDHA):c.782TCT[2] (p.Phe263del) (rs398123505)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000079254 SCV000111124 uncertain significance not provided 2013-04-18 criteria provided, single submitter clinical testing
Invitae RCV000692185 SCV000819996 uncertain significance Maple syrup urine disease 2018-10-30 criteria provided, single submitter clinical testing This variant, c.788_790delTCT, results in the deletion of 1 amino acid of the BCKDHA protein (p.Phe263del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs766791580, ExAC 0.01%). This variant has not been reported in the literature in individuals with BCKDHA-related disease. ClinVar contains an entry for this variant (Variation ID: 93372). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Department of Genetics,Sultan Qaboos University Hospital, Oman RCV000692185 SCV000891583 pathogenic Maple syrup urine disease 2017-12-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275915 SCV001461594 uncertain significance Maple syrup urine disease type 1A 2020-09-16 no assertion criteria provided clinical testing

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