ClinVar Miner

Submissions for variant NM_000284.4(PDHA1):c.1109_1122del (p.Ser370fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV002284015 SCV002573331 uncertain significance Pyruvate dehydrogenase E1-alpha deficiency 2022-09-01 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Frameshift variant is predicted to result in a loss or disruption of normal protein function through protein truncation. The predicted truncated protein may be shortened by less than 10%. However, several pathogenic frameshift variants downstream of the patient's variant were reported. The evidence of pathogenicity is insufficient at this time. Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.

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