ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.18290G>T (p.Ser6097Ile)

gnomAD frequency: 0.00001  dbSNP: rs899182753
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001367825 SCV001564191 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2021-07-20 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals with SYNE1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with isoleucine at codon 6026 of the SYNE1 protein (p.Ser6026Ile). The serine residue is weakly conserved and there is a large physicochemical difference between serine and isoleucine.
Revvity Omics, Revvity RCV003490229 SCV004237948 uncertain significance not provided 2023-05-22 criteria provided, single submitter clinical testing

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