ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.12238A>G (p.Arg4080Gly)

gnomAD frequency: 0.00004  dbSNP: rs769301000
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000811817 SCV000952104 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2023-12-24 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 4080 of the SYNE2 protein (p.Arg4080Gly). This variant is present in population databases (rs769301000, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with SYNE2-related conditions. ClinVar contains an entry for this variant (Variation ID: 655605). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The glycine 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.
Revvity Omics, Revvity RCV000811817 SCV003818295 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2024-01-18 criteria provided, single submitter clinical testing

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