ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.13718A>C (p.Lys4573Thr)

gnomAD frequency: 0.00005  dbSNP: rs368653411
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000701604 SCV000830414 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-05-30 criteria provided, single submitter clinical testing This variant is present in population databases (rs368653411, gnomAD 0.02%). This sequence change replaces lysine, which is basic and polar, with threonine, which is neutral and polar, at codon 4502 of the SYNE1 protein (p.Lys4502Thr). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. 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. 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 578558).
Eurofins Ntd Llc (ga) RCV000729725 SCV000857411 uncertain significance not provided 2017-10-10 criteria provided, single submitter clinical testing
GeneDx RCV000729725 SCV002552641 uncertain significance not provided 2022-07-07 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 RCV000729725 SCV003825215 uncertain significance not provided 2019-08-20 criteria provided, single submitter clinical testing

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