ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.9929T>C (p.Ile3310Thr)

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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 RCV002846226 SCV003216610 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2023-06-23 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SYNE2-related conditions. This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 3310 of the SYNE2 protein (p.Ile3310Thr). This variant is present in population databases (no rsID available, gnomAD 0.003%). ClinVar contains an entry for this variant (Variation ID: 2015194). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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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