ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.25046T>C (p.Ile8349Thr)

gnomAD frequency: 0.00002  dbSNP: rs927451522
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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 RCV000647630 SCV000769428 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2017-08-31 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SYNE1-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: "Benign"; 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. This sequence change replaces isoleucine with threonine at codon 8301 of the SYNE1 protein (p.Ile8301Thr). The isoleucine residue is moderately conserved and there is a moderate physicochemical difference between isoleucine and threonine.
Eurofins Ntd Llc (ga) RCV000733316 SCV000861365 uncertain significance not provided 2018-05-25 criteria provided, single submitter clinical testing

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