ClinVar Miner

Submissions for variant NM_001256545.2(MEGF10):c.3387_3388delinsAA (p.Gly1130Ser)

dbSNP: rs1766400841
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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 RCV001040970 SCV001204563 uncertain significance MEGF10-related myopathy 2019-12-30 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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 Glycine with Serine at codon 1130 of the MEGF10 protein (p.Gly1130Ser). The Glycine residue is weakly conserved and there is a small physicochemical difference between Glycine and Serine.

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