ClinVar Miner

Submissions for variant NM_000284.4(PDHA1):c.1172_*3del (p.Ser390_Ter391insTer)

dbSNP: rs1555935577
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000627391 SCV000748385 likely benign not specified 2017-10-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Natera, Inc. RCV001271291 SCV001452369 likely benign Pyruvate dehydrogenase complex deficiency 2020-09-16 no assertion criteria provided clinical testing

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