ClinVar Miner

Submissions for variant NM_001256545.2(MEGF10):c.2027C>T (p.Thr676Ile)

gnomAD frequency: 0.00001  dbSNP: rs749879382
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002040873 SCV002316868 uncertain significance MEGF10-related myopathy 2022-08-10 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 1516566). This variant has not been reported in the literature in individuals affected with MEGF10-related conditions. This variant is present in population databases (rs749879382, gnomAD 0.003%). This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 676 of the MEGF10 protein (p.Thr676Ile).

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