ClinVar Miner

Submissions for variant NM_001256545.2(MEGF10):c.322C>T (p.His108Tyr)

gnomAD frequency: 0.00001  dbSNP: rs769476956
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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 RCV001361757 SCV001557747 uncertain significance MEGF10-related myopathy 2020-02-04 criteria provided, single submitter clinical testing This sequence change replaces histidine with tyrosine at codon 108 of the MEGF10 protein (p.His108Tyr). The histidine residue is highly conserved and there is a moderate physicochemical difference between histidine and tyrosine. 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. 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"). This variant has not been reported in the literature in individuals with MEGF10-related conditions. This variant is present in population databases (rs769476956, ExAC 0.002%).

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