ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.18513G>T (p.Arg6171Ser)

gnomAD frequency: 0.00001  dbSNP: rs764725032
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000993145 SCV001145908 uncertain significance not provided 2018-11-16 criteria provided, single submitter clinical testing
Invitae RCV001235253 SCV001407931 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces arginine with serine at codon 6100 of the SYNE1 protein (p.Arg6100Ser). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. 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 tolerated. 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 RCV000993145 SCV004160533 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing SYNE1: BP4

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