ClinVar Miner

Submissions for variant NM_000284.4(PDHA1):c.759+26G>A (rs1555934413)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000640505 SCV000762097 uncertain significance Pyruvate dehydrogenase E1-alpha deficiency 2017-12-06 criteria provided, single submitter clinical testing This sequence change falls in intron 7 of the PDHA1 gene. It does not directly change the encoded amino acid sequence of the PDHA1 protein. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with lactic acidosis (PMID: 12551913). Experimental studies have shown that this intronic change leads to the activation of a cryptic in-frame donor splice site in intron 7 that would result in the inclusion of 15 aberrant amino acids into the PDHA1 protein (PMID: 12551913). 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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