ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.15841G>A (p.Asp5281Asn)

dbSNP: rs1322082202
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001092457 SCV001248977 uncertain significance not provided 2019-07-01 criteria provided, single submitter clinical testing
Invitae RCV001862711 SCV002250930 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-09-12 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 872152). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 5210 of the SYNE1 protein (p.Asp5210Asn). 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").

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