ClinVar Miner

Submissions for variant NM_001256545.2(MEGF10):c.1833T>G (p.Cys611Trp)

gnomAD frequency: 0.00001  dbSNP: rs1765456920
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001209121 SCV001380542 uncertain significance MEGF10-related myopathy 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces cysteine with tryptophan at codon 611 of the MEGF10 protein (p.Cys611Trp). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and tryptophan. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with multiminicore disease (PMID: 26802438). It has also been observed to segregate with disease in related individuals. 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.
Mayo Clinic Laboratories, Mayo Clinic RCV003480992 SCV004227118 uncertain significance not provided 2023-03-23 criteria provided, single submitter clinical testing PM2

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