ClinVar Miner

Submissions for variant NM_005390.5(PDHA2):c.404A>G (p.Glu135Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV005391592 SCV006050196 uncertain significance not specified 2024-12-23 criteria provided, single submitter clinical testing The c.404A>G (p.E135G) alteration is located in exon 1 (coding exon 1) of the PDHA2 gene. This alteration results from a A to G substitution at nucleotide position 404, causing the glutamic acid (E) at amino acid position 135 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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