ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.3755T>C (p.Ile1252Thr)

gnomAD frequency: 0.00005  dbSNP: rs767383909
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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 RCV001228639 SCV001401047 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2022-10-18 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 threonine 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. ClinVar contains an entry for this variant (Variation ID: 955919). This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1252 of the SYNE2 protein (p.Ile1252Thr). This variant is present in population databases (rs767383909, gnomAD 0.04%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with SYNE2-related conditions.

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