ClinVar Miner

Submissions for variant NM_001256545.2(MEGF10):c.3179C>T (p.Pro1060Leu)

gnomAD frequency: 0.00002  dbSNP: rs747619139
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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 RCV002008822 SCV002276672 uncertain significance MEGF10-related myopathy 2023-05-23 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1487770). This variant has not been reported in the literature in individuals affected with MEGF10-related conditions. This variant is present in population databases (rs747619139, gnomAD 0.003%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1060 of the MEGF10 protein (p.Pro1060Leu).

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