ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.14400A>G (p.Ile4800Met)

gnomAD frequency: 0.00003  dbSNP: rs368522050
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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 RCV001305501 SCV001494838 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2023-06-21 criteria provided, single submitter clinical testing 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. 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 methionine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This sequence change replaces isoleucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 4800 of the SYNE2 protein (p.Ile4800Met). This variant is present in population databases (rs368522050, gnomAD 0.02%). 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: 1008200).

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