ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.20737C>T (p.Arg6913Cys)

gnomAD frequency: 0.00011  dbSNP: rs142593312
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001051961 SCV001216146 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-05-27 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 6842 of the SYNE1 protein (p.Arg6842Cys). This variant is present in population databases (rs142593312, gnomAD 0.01%). 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: 848247). 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. 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.
CeGaT Center for Human Genetics Tuebingen RCV001092453 SCV001248971 uncertain significance not provided 2019-08-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV001092453 SCV002771380 uncertain significance not provided 2021-08-09 criteria provided, single submitter clinical testing
GenomeConnect - Invitae Patient Insights Network RCV003483766 SCV004228870 not provided Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant; Autosomal recessive myogenic arthrogryposis multiplex congenita no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 08-05-2020 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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