ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.9394A>G (p.Ser3132Gly)

gnomAD frequency: 0.00051  dbSNP: rs138481762
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000731790 SCV000859642 uncertain significance not provided 2018-02-15 criteria provided, single submitter clinical testing
Invitae RCV001049388 SCV001213434 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 3139 of the SYNE1 protein (p.Ser3139Gly). This variant is present in population databases (rs138481762, 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: 596074). 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.
CeGaT Center for Human Genetics Tuebingen RCV000731790 SCV001371506 uncertain significance not provided 2020-04-01 criteria provided, single submitter clinical testing
GeneDx RCV000731790 SCV001790094 uncertain significance not provided 2021-06-10 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27535533)
Fulgent Genetics, Fulgent Genetics RCV002477708 SCV002789281 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant; Arthrogryposis multiplex congenita 3, myogenic type 2021-12-11 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000731790 SCV003827023 uncertain significance not provided 2019-11-15 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000731790 SCV004229308 uncertain significance not provided 2023-03-17 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is higher than would generally be expected for pathogenic variants in this gene (http://gnomad.broadinstitute.org). Computational tools predict that this variant is not damaging.

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