ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.14029G>A (p.Ala4677Thr)

gnomAD frequency: 0.00014  dbSNP: rs374301933
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001059535 SCV001224162 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2023-06-20 criteria provided, single submitter clinical testing This variant is present in population databases (rs374301933, gnomAD 0.05%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 4606 of the SYNE1 protein (p.Ala4606Thr). 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: 854473). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". 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 RCV002473184 SCV002771347 uncertain significance not provided 2021-08-20 criteria provided, single submitter clinical testing

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