ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.6040G>T (p.Glu2014Ter)

gnomAD frequency: 0.00001  dbSNP: rs961554467
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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 RCV001935474 SCV002178440 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2023-03-23 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SYNE2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1406586). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu2014*) 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.

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