ClinVar Miner

Submissions for variant NM_024884.3(L2HGDH):c.1177A>G (p.Thr393Ala) (rs150157112)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000504446 SCV000595484 uncertain significance not specified 2017-04-14 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765168 SCV000896398 uncertain significance L-2-hydroxyglutaric aciduria 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000765168 SCV000939652 uncertain significance L-2-hydroxyglutaric aciduria 2018-07-18 criteria provided, single submitter clinical testing This sequence change replaces threonine with alanine at codon 393 of the L2HGDH protein (p.Thr393Ala). The threonine residue is moderately conserved and there is a small physicochemical difference between threonine and alanine. This variant is present in population databases (rs150157112, ExAC 0.04%). This variant has not been reported in the literature in individuals with L2HGDH-related disease. ClinVar contains an entry for this variant (Variation ID: 435690). 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 tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000676574 SCV000802361 uncertain significance not provided 2016-03-14 no assertion criteria provided clinical testing

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