ClinVar Miner

Submissions for variant NM_001191061.2(SLC25A22):c.658G>A (p.Glu220Lys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003075190 SCV003463036 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2022-05-29 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 220 of the SLC25A22 protein (p.Glu220Lys). This variant is present in population databases (rs781132225, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with SLC25A22-related conditions. 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. 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.
GeneDx RCV004765662 SCV005378040 uncertain significance not provided 2024-04-15 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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