ClinVar Miner

Submissions for variant NM_003477.3(PDHX):c.1052A>G (p.Asp351Gly)

gnomAD frequency: 0.00014  dbSNP: rs200866298
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000197092 SCV000252065 uncertain significance not provided 2023-06-01 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
New York Genome Center RCV001420534 SCV001622837 uncertain significance Pyruvate dehydrogenase E3-binding protein deficiency 2020-07-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000197092 SCV002290833 uncertain significance not provided 2024-11-15 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 351 of the PDHX protein (p.Asp351Gly). This variant is present in population databases (rs200866298, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with PDHX-related conditions. ClinVar contains an entry for this variant (Variation ID: 214964). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt PDHX protein function with a negative predictive value of 80%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002515423 SCV003708130 uncertain significance Inborn genetic diseases 2024-06-04 criteria provided, single submitter clinical testing The c.1052A>G (p.D351G) alteration is located in exon 9 (coding exon 9) of the PDHX gene. This alteration results from a A to G substitution at nucleotide position 1052, causing the aspartic acid (D) at amino acid position 351 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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