ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.23549G>T (p.Ser7850Ile)

gnomAD frequency: 0.00001  dbSNP: rs781532655
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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 RCV001201731 SCV001372817 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2019-06-11 criteria provided, single submitter clinical testing This sequence change replaces serine with isoleucine at codon 7779 of the SYNE1 protein (p.Ser7779Ile). The serine residue is highly conserved and there is a large physicochemical difference between serine and isoleucine. This variant is present in population databases (rs781532655, ExAC 0.001%). This variant has not been reported in the literature in individuals with SYNE1-related conditions. 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 RCV001751368 SCV001987040 uncertain significance not provided 2019-05-23 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); 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
Breakthrough Genomics, Breakthrough Genomics RCV001751368 SCV005189290 uncertain significance not provided criteria provided, single submitter not provided

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