ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.11390C>T (p.Thr3797Ile)

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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 RCV002795256 SCV003019577 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2022-09-25 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The isoleucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 has not been reported in the literature in individuals affected with SYNE2-related conditions. This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 3797 of the SYNE2 protein (p.Thr3797Ile). This variant is not present in population databases (gnomAD no frequency).

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