ClinVar Miner

Submissions for variant NM_000284.4(PDHA1):c.874_881dup (p.Met294fs)

dbSNP: rs2063213396
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001044643 SCV001208449 pathogenic Pyruvate dehydrogenase E1-alpha deficiency 2019-05-01 criteria provided, single submitter clinical testing This variant has been observed in an individual clinical features of lactic acidosis and brain abnormalities, consistent with pyruvate dehydrogenase E1-alpha deficiency (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Met294Ilefs*4) in the PDHA1 gene. It is expected to result in an absent or disrupted protein product. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in PDHA1 are known to be pathogenic (PMID: 10679936, 21914562).

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