ClinVar Miner

Submissions for variant NM_001256545.2(MEGF10):c.211C>T (p.Arg71Trp)

gnomAD frequency: 0.00001  dbSNP: rs387907074
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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 RCV001325593 SCV001516589 uncertain significance MEGF10-related myopathy 2022-08-22 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 71 of the MEGF10 protein (p.Arg71Trp). This variant is present in population databases (rs387907074, gnomAD 0.006%). 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"). ClinVar contains an entry for this variant (Variation ID: 30967). This missense change has been observed in individual(s) with clinical features of early-onset myopathy, areflexia, respiratory distress and dysphasia (EMARDD) (PMID: 22371254).
OMIM RCV000023958 SCV000045249 pathogenic Congenital myopathy 10b, mild variant 2012-05-01 no assertion criteria provided literature only

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