ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.7254A>C (p.Gln2418His)

dbSNP: rs984046422
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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 RCV000690338 SCV000818020 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2021-07-20 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamine with histidine at codon 2418 of the SYNE2 protein (p.Gln2418His). The glutamine residue is weakly conserved and there is a small physicochemical difference between glutamine and histidine. This variant has not been reported in the literature in individuals with SYNE2-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably 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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