ClinVar Miner

Submissions for variant NM_001271938.2(MEGF8):c.4492C>T (p.Arg1498Cys)

gnomAD frequency: 0.00002  dbSNP: rs747096596
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000800793 SCV000940527 uncertain significance MEGF8-related Carpenter syndrome 2018-12-24 criteria provided, single submitter clinical testing 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: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with MEGF8-related conditions. This variant is present in population databases (rs747096596, ExAC 0.06%). This sequence change replaces arginine with cysteine at codon 1431 of the MEGF8 protein (p.Arg1431Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine.
GeneDx RCV001772065 SCV002001899 uncertain significance not provided 2020-01-30 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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