ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.26044G>C (p.Gly8682Arg)

gnomAD frequency: 0.00024  dbSNP: rs201664645
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000734649 SCV000615651 uncertain significance not provided 2021-05-13 criteria provided, single submitter clinical testing
Invitae RCV000686656 SCV000814184 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-09-07 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 8634 of the SYNE1 protein (p.Gly8634Arg). This variant is present in population databases (rs201664645, 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: 448594). 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: "Probably Damaging"; 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.
Eurofins Ntd Llc (ga) RCV000734649 SCV000862805 uncertain significance not provided 2018-08-10 criteria provided, single submitter clinical testing
GeneDx RCV000734649 SCV001794449 uncertain significance not provided 2021-01-22 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity RCV000734649 SCV003826486 uncertain significance not provided 2020-10-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000734649 SCV004160496 uncertain significance not provided 2023-02-01 criteria provided, single submitter clinical testing SYNE1: PM2

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