ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.7304G>A (p.Arg2435His)

gnomAD frequency: 0.00003  dbSNP: rs759461786
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001304034 SCV001493301 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-07-19 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1006917). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. This variant is present in population databases (rs759461786, gnomAD 0.01%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 2442 of the SYNE1 protein (p.Arg2442His). 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: "Tolerated"; 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.
Revvity Omics, Revvity RCV003135938 SCV003825268 uncertain significance not provided 2021-04-09 criteria provided, single submitter clinical testing
GeneDx RCV003135938 SCV005377272 uncertain significance not provided 2023-11-16 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

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