ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.14991G>T (p.Arg4997Ser)

gnomAD frequency: 0.00011  dbSNP: rs201306174
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000713604 SCV000343446 uncertain significance not provided 2016-07-05 criteria provided, single submitter clinical testing
Invitae RCV000701925 SCV000830749 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-10-05 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with serine, which is neutral and polar, at codon 4926 of the SYNE1 protein (p.Arg4926Ser). This variant is present in population databases (rs201306174, gnomAD 0.02%). 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: 289145). 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: "Benign"; Align-GVGD: "Class C35"). 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 Inc RCV000713604 SCV000844229 uncertain significance not provided 2023-01-27 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 uninformative in assessment of its pathogenicity (http://gnomad.broadinstitute.org). Computational tools predict that this variant is not damaging.
GeneDx RCV000713604 SCV002525348 uncertain significance not provided 2022-05-27 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Revvity Omics, Revvity RCV000713604 SCV003824046 uncertain significance not provided 2021-05-19 criteria provided, single submitter clinical testing
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001252112 SCV001427861 likely benign Intellectual disability 2019-01-01 no assertion criteria provided clinical testing

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