ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.3871C>G (p.Pro1291Ala)

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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 RCV002299144 SCV002591467 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2022-08-02 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 proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 1291 of the SYNE2 protein (p.Pro1291Ala). This variant is not present in population databases (gnomAD 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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