ClinVar Miner

Submissions for variant NM_001256545.2(MEGF10):c.935C>T (p.Pro312Leu)

gnomAD frequency: 0.00001  dbSNP: rs199702225
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001346847 SCV001541082 uncertain significance MEGF10-related myopathy 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 312 of the MEGF10 protein (p.Pro312Leu). This variant is present in population databases (rs199702225, gnomAD 0.07%). 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: 1042831). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 RCV001569087 SCV001793078 uncertain significance not provided 2020-04-28 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV001346847 SCV002776359 uncertain significance MEGF10-related myopathy 2022-04-07 criteria provided, single submitter clinical testing

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