ClinVar Miner

Submissions for variant NM_000925.4(PDHB):c.1029A>G (p.Ile343Met)

gnomAD frequency: 0.00050  dbSNP: rs149830613
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001246079 SCV001419417 uncertain significance Pyruvate dehydrogenase E1-beta deficiency 2022-10-24 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 343 of the PDHB protein (p.Ile343Met). This variant is present in population databases (rs149830613, gnomAD 0.2%). 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: 970499). 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.
Ambry Genetics RCV004034851 SCV005003728 uncertain significance Inborn genetic diseases 2021-09-16 criteria provided, single submitter clinical testing The c.1029A>G (p.I343M) alteration is located in exon 10 (coding exon 10) of the PDHB gene. This alteration results from a A to G substitution at nucleotide position 1029, causing the isoleucine (I) at amino acid position 343 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV004590278 SCV005081056 uncertain significance not provided 2024-04-23 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV001280181 SCV001467341 uncertain significance Pyruvate dehydrogenase complex deficiency 2020-08-18 no assertion criteria provided clinical testing

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