ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.1933T>A (p.Ser645Thr)

dbSNP: rs770407837
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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 RCV001220423 SCV001392411 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2019-08-19 criteria provided, single submitter clinical testing This sequence change replaces serine with threonine at codon 645 of the SYNE2 protein (p.Ser645Thr). The serine residue is weakly conserved and there is a small physicochemical difference between serine and threonine. This variant is present in population databases (rs770407837, ExAC 0.01%). This variant has not been reported in the literature in individuals with SYNE2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0". The threonine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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