ClinVar Miner

Submissions for variant NM_000284.4(PDHA1):c.689G>C (p.Gly230Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology RCV004586421 SCV005077780 uncertain significance Pyruvate dehydrogenase E1-alpha deficiency 2024-05-31 criteria provided, single submitter clinical testing The c.689G>C variant is not present in publicly available population databases like 1000 Genomes, ExAC, EVS, gnomAD, Indian Exome Database or our in-house exome database. This variant has neither been published in literature in individuals with PDHA1-related conditions nor reported to the clinical databases like Human Genome Mutation Database (HGMD), ClinVar or OMIM, in any affected individuals. In-silico pathogenicity prediction programs like SIFT, PolyPhen-2, MutationTaster2, CADD, Franklin etc predicted the variant to be likely deleterious, however these predictions were not confirmed by published functional studies. This variant is present in a mutational hotspot region of the gene.

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