ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.15568C>G (p.Gln5190Glu)

gnomAD frequency: 0.00020  dbSNP: rs138368397
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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) RCV000180405 SCV000232832 uncertain significance not provided 2017-11-15 criteria provided, single submitter clinical testing
Invitae RCV000647614 SCV000769412 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2023-09-17 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 5119 of the SYNE1 protein (p.Gln5119Glu). This variant is present in population databases (rs138368397, gnomAD 0.09%), and has an allele count higher than expected for a pathogenic variant. 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: 198942). 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 disruptive. 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 RCV000180405 SCV001785408 uncertain significance not provided 2021-05-17 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
Athena Diagnostics Inc RCV001657961 SCV001880814 likely benign not specified 2021-03-03 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000180405 SCV003826322 uncertain significance not provided 2023-07-19 criteria provided, single submitter clinical testing

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