ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.21469C>T (p.Arg7157Cys)

gnomAD frequency: 0.00010  dbSNP: rs757688642
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000699023 SCV000827717 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-03-18 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The cysteine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 576512). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. This variant is present in population databases (rs757688642, gnomAD 0.05%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 7086 of the SYNE1 protein (p.Arg7086Cys).
GeneDx RCV001766519 SCV001999790 uncertain significance not provided 2019-12-05 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 RCV001766519 SCV003826465 uncertain significance not provided 2021-11-26 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001766519 SCV005408043 uncertain significance not provided 2024-04-25 criteria provided, single submitter clinical testing BP4

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