ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.7523A>T (p.Gln2508Leu)

gnomAD frequency: 0.00005  dbSNP: rs201127061
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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) RCV000596014 SCV000704351 uncertain significance not provided 2016-12-27 criteria provided, single submitter clinical testing
Invitae RCV000793757 SCV000933127 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2023-06-15 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 499048). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. This variant is present in population databases (rs201127061, gnomAD 0.02%). This sequence change replaces glutamine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 2515 of the SYNE1 protein (p.Gln2515Leu).
GeneDx RCV000596014 SCV001764967 uncertain significance not provided 2020-04-03 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
Athena Diagnostics Inc RCV000596014 SCV001880883 uncertain significance not provided 2021-02-26 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000596014 SCV003822768 uncertain significance not provided 2023-07-11 criteria provided, single submitter clinical testing

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