ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.3506A>T (p.Glu1169Val)

gnomAD frequency: 0.00001  dbSNP: rs750101869
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000390964 SCV000335438 uncertain significance not provided 2015-09-15 criteria provided, single submitter clinical testing
Invitae RCV001056871 SCV001221336 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2024-01-08 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 1176 of the SYNE1 protein (p.Glu1176Val). This variant is present in population databases (rs750101869, 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: 283391). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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.
GeneDx RCV000390964 SCV001982881 uncertain significance not provided 2021-09-29 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity Omics RCV000390964 SCV003825283 uncertain significance not provided 2021-06-28 criteria provided, single submitter clinical testing
Baylor Genetics RCV003147440 SCV003834910 uncertain significance Arthrogryposis multiplex congenita 3, myogenic type 2021-03-10 criteria provided, single submitter clinical testing

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