ClinVar Miner

Submissions for variant NM_001256545.2(MEGF10):c.1831T>C (p.Cys611Arg)

gnomAD frequency: 0.00001  dbSNP: rs1765456845
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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 RCV001042109 SCV001205773 uncertain significance MEGF10-related myopathy 2019-03-15 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with MEGF10-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces cysteine with arginine at codon 611 of the MEGF10 protein (p.Cys611Arg). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and arginine. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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. This variant disrupts the p.Cys611 amino acid residue in MEGF10. Other variant(s) that disrupt this residue have been observed in individuals with MEGF10-related conditions (PMID: 26802438), which suggests that this may be a clinically significant amino acid residue.

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