ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.3541del (p.Glu1181fs)

dbSNP: rs2096746644
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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 RCV001301273 SCV001490437 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2020-03-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu1181Lysfs*4) in the SYNE2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SYNE2-related conditions. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in SYNE2 cause disease. 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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