ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.16553G>A (p.Arg5518Gln)

gnomAD frequency: 0.00002  dbSNP: rs150604289
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000263921 SCV000345168 uncertain significance not provided 2016-09-15 criteria provided, single submitter clinical testing
Invitae RCV000702090 SCV000830924 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-07-05 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 290590). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. This variant is present in population databases (rs150604289, gnomAD 0.01%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 5447 of the SYNE1 protein (p.Arg5447Gln).
Athena Diagnostics Inc RCV000263921 SCV001880822 uncertain significance not provided 2021-02-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000263921 SCV003917106 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing SYNE1: BP4

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