ClinVar Miner

Submissions for variant NM_005138.3(SCO2):c.406A>C (p.Ile136Leu)

gnomAD frequency: 0.00001  dbSNP: rs781539081
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196853 SCV001367486 uncertain significance Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 2019-04-30 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PP3.
Invitae RCV001863111 SCV002177468 uncertain significance not provided 2022-09-27 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 136 of the SCO2 protein (p.Ile136Leu). This variant is present in population databases (rs781539081, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with SCO2-related conditions. ClinVar contains an entry for this variant (Variation ID: 930878). 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 SCO2 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.

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