ClinVar Miner

Submissions for variant NM_000925.4(PDHB):c.836T>C (p.Ile279Thr)

dbSNP: rs1392622459
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001578704 SCV001805986 uncertain significance Pyruvate dehydrogenase E1-beta deficiency 2021-07-14 criteria provided, single submitter clinical testing
Invitae RCV001578704 SCV003523118 uncertain significance Pyruvate dehydrogenase E1-beta deficiency 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 279 of the PDHB protein (p.Ile279Thr). This variant is present in population databases (no rsID available, gnomAD no frequency). 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: 991899). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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. RCV001280185 SCV001467345 uncertain significance Pyruvate dehydrogenase complex deficiency 2020-08-13 no assertion criteria provided clinical testing

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