ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.11726T>C (p.Ile3909Thr)

gnomAD frequency: 0.00001  dbSNP: rs772794050
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001063679 SCV001228537 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2021-10-13 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 3894 of the SYNE1 protein (p.Ile3894Thr). The isoleucine residue is weakly conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is present in population databases (rs772794050, ExAC 0.001%). 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Athena Diagnostics Inc RCV002473188 SCV002771428 uncertain significance not provided 2022-04-28 criteria provided, single submitter clinical testing

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