ClinVar Miner

Submissions for variant NM_000284.4(PDHA1):c.1117_1128del (p.Pro373_Glu376del) (rs1602233040)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000816048 SCV000956537 uncertain significance Pyruvate dehydrogenase E1-alpha deficiency 2018-08-14 criteria provided, single submitter clinical testing This variant, c.1117_1128delCCACCTTTTGAA, results in the deletion of 4 amino acid(s) of the PDHA1 protein (p.Pro373_Glu376del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PDHA1-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids 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.

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