ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.13555G>A (p.Glu4519Lys)

gnomAD frequency: 0.00001  dbSNP: rs571224180
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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 RCV001235568 SCV001408259 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2019-09-20 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 4448 of the SYNE1 protein (p.Glu4448Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs571224180, ExAC 0.03%). This variant has not been reported in the literature in individuals with SYNE1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). 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.
Athena Diagnostics RCV001288814 SCV001476183 uncertain significance not provided 2019-10-14 criteria provided, single submitter clinical testing

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