ClinVar Miner

Submissions for variant NM_002541.4(OGDH):c.44C>T (p.Thr15Met)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004771703 SCV005382388 uncertain significance Oxoglutaricaciduria 2023-05-20 criteria provided, single submitter clinical testing The observed missense c.44C>T(p.Thr15Met) variant in OGDH gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is present with an allele frequency of 0.002% in gnomAD Exomes database. This variant has not been submitted to the ClinVar database. Computational evidence (Polyphen - probably damaging, SIFT -Tolerated and MutationTaster - disease causing) predicts conflicting evidence on protein structure and function for this variant. The reference amino acid is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Thr at position 15 is changed to a Met changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as Uncertain Significance (VUS).

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