ClinVar Miner

Submissions for variant NM_001256545.2(MEGF10):c.596A>G (p.Asn199Ser)

gnomAD frequency: 0.00012  dbSNP: rs373163952
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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 RCV000694785 SCV000823245 uncertain significance MEGF10-related myopathy 2022-09-06 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 199 of the MEGF10 protein (p.Asn199Ser). This variant is present in population databases (rs373163952, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with MEGF10-related conditions. ClinVar contains an entry for this variant (Variation ID: 573183). 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. 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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