ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.8626A>C (p.Thr2876Pro)

dbSNP: rs1322044514
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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 RCV001886996 SCV002166699 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2021-07-14 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 threonine with proline at codon 2876 of the SYNE2 protein (p.Thr2876Pro). The threonine residue is weakly conserved and there is a small physicochemical difference between threonine and proline. This variant is not present in population databases (ExAC no frequency). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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