ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.6920C>T (p.Thr2307Ile)

gnomAD frequency: 0.00030  dbSNP: rs141049001
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000309762 SCV000340872 uncertain significance not provided 2016-04-26 criteria provided, single submitter clinical testing
GeneDx RCV000309762 SCV001754139 uncertain significance not provided 2021-03-25 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001859662 SCV002258552 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-08-22 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 2314 of the SYNE1 protein (p.Thr2314Ile). This variant is present in population databases (rs141049001, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. ClinVar contains an entry for this variant (Variation ID: 287177). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Revvity Omics, Revvity RCV000309762 SCV003826459 uncertain significance not provided 2021-04-16 criteria provided, single submitter clinical testing

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