ClinVar Miner

Submissions for variant NM_001256545.2(MEGF10):c.1654C>T (p.Pro552Ser)

gnomAD frequency: 0.00004  dbSNP: rs978960737
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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 RCV000649859 SCV000771693 uncertain significance MEGF10-related myopathy 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 552 of the MEGF10 protein (p.Pro552Ser). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with MEGF10-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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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