ClinVar Miner

Submissions for variant NM_003477.3(PDHX):c.622C>T (p.Arg208Trp)

gnomAD frequency: 0.00012  dbSNP: rs61752927
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000791553 SCV000930809 uncertain significance not provided 2023-12-06 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 208 of the PDHX protein (p.Arg208Trp). This variant is present in population databases (rs61752927, gnomAD 0.02%). 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: 638884). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt PDHX protein function with a positive 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.
Baylor Genetics RCV001332271 SCV001524531 uncertain significance Pyruvate dehydrogenase E3-binding protein deficiency 2019-02-21 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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