ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.2031dup (p.Gln678fs)

dbSNP: rs750736888
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000658694 SCV000780480 uncertain significance not provided 2018-02-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002534294 SCV003300132 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2022-10-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln678Thrfs*7) in the SYNE2 gene. It is expected to result in an absent or disrupted protein product. However, 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. ClinVar contains an entry for this variant (Variation ID: 546740). This variant has not been reported in the literature in individuals affected with SYNE2-related conditions. This variant is present in population databases (rs750736888, gnomAD 0.003%).

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