ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.2030G>A (p.Arg677His)

gnomAD frequency: 0.00003  dbSNP: rs767684007
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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) RCV000337426 SCV000343091 uncertain significance not provided 2016-06-19 criteria provided, single submitter clinical testing
Invitae RCV000647633 SCV000769431 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-06-27 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 684 of the SYNE1 protein (p.Arg684His). This variant is present in population databases (rs767684007, gnomAD 0.006%). 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: 288858). 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: "Possibly 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.
GeneDx RCV000337426 SCV001999160 uncertain significance not provided 2019-11-08 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
Revvity Omics, Revvity RCV000337426 SCV003825354 uncertain significance not provided 2022-12-09 criteria provided, single submitter clinical testing

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