ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.8929del (p.Val2977fs)

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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 RCV005106687 SCV005733629 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2024-11-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val2977Leufs*23) 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. This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with SYNE2-related conditions. 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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