ClinVar Miner

Submissions for variant NM_000284.4(PDHA1):c.522C>T (p.Gly174=)

gnomAD frequency: 0.00001  dbSNP: rs769308417
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Total submissions: 2
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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 RCV001090049 SCV001244192 uncertain significance Pyruvate dehydrogenase E1-alpha deficiency 2020-03-24 criteria provided, single submitter clinical testing The c.522C>T variant is not present in publicly available databases like 1000 Genomes and Exome Variant Server (EVS). It is present in Exome Aggregation Consortium (ExAC), Genome Aggregation Database (gnomAD) and dbSNP at a very low frequency including hemizygote (MAF<0.0001). The variant is not present in our in-house exome database. The variant was not reported to OMIM, Human Genome Mutation Database (HGMD) or ClinVar databases in any affected individuals. In-silico pathogenicity prediction programs like MutationTaster2, CADD etc. predicted this variant to be likely deleterious. The variant is present near the 5' end of intron-exon junction of exon 6 and may affect splicing as also predicted by online program Human Splice Finder version 3.1. However there are no documented functional studies to prove this. Due to lack of enough evidence the variant has been classified as uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001090049 SCV001716762 benign Pyruvate dehydrogenase E1-alpha deficiency 2023-10-04 criteria provided, single submitter clinical testing

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