ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.17908A>T (p.Lys5970Ter)

dbSNP: rs2098511234
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001050178 SCV001214274 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2019-04-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys5970*) in the SYNE2 gene. It is expected to result in an absent or disrupted protein product. 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. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in SYNE2 cause disease. This variant has not been reported in the literature in individuals with SYNE2-related conditions. This variant is not present in population databases (ExAC no frequency).

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