ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.17539G>C (p.Glu5847Gln)

dbSNP: rs201427580
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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 RCV000647543 SCV000769339 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2017-11-28 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with SYNE2-related disease. This sequence change replaces glutamic acid with glutamine at codon 5847 of the SYNE2 protein (p.Glu5847Gln). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and glutamine. This variant is not present in population databases (ExAC no frequency). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.

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