ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.17015G>A (p.Arg5672Gln)

dbSNP: rs886043150
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000326469 SCV000338694 uncertain significance not provided 2016-02-01 criteria provided, single submitter clinical testing
Invitae RCV001855152 SCV002248640 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-06-28 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. 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: 285592). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 5601 of the SYNE1 protein (p.Arg5601Gln).
Revvity Omics, Revvity RCV000326469 SCV003824028 uncertain significance not provided 2020-11-02 criteria provided, single submitter clinical testing
GeneDx RCV000326469 SCV004012169 uncertain significance not provided 2023-01-06 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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

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