ClinVar Miner

Submissions for variant NM_000925.4(PDHB):c.782T>C (p.Val261Ala)

gnomAD frequency: 0.00001  dbSNP: rs761614417
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001218776 SCV001390678 uncertain significance Pyruvate dehydrogenase E1-beta deficiency 2022-10-28 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 261 of the PDHB protein (p.Val261Ala). This variant is present in population databases (rs761614417, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with PDHB-related conditions. ClinVar contains an entry for this variant (Variation ID: 947661). 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 not expected to disrupt PDHB protein function. 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.
Natera, Inc. RCV001833896 SCV002082364 uncertain significance Pyruvate dehydrogenase phosphatase deficiency 2020-11-19 no assertion criteria provided clinical testing

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