ClinVar Miner

Submissions for variant NM_005390.5(PDHA2):c.35G>A (p.Arg12Gln)

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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 RCV005391591 SCV006050195 uncertain significance not specified 2025-01-25 criteria provided, single submitter clinical testing The c.35G>A (p.R12Q) alteration is located in exon 1 (coding exon 1) of the PDHA2 gene. This alteration results from a G to A substitution at nucleotide position 35, causing the arginine (R) at amino acid position 12 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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