ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.20328G>C (p.Trp6776Cys)

gnomAD frequency: 0.00001  dbSNP: rs539439844
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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) RCV000399546 SCV000344031 uncertain significance not provided 2016-08-22 criteria provided, single submitter clinical testing
Invitae RCV003765669 SCV004594915 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2023-05-28 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 289642). This variant is also known as c.20328G>C (p.(Trp6776Cys). This missense change has been observed in individual(s) with clinical features of SYNE1-related conditions (PMID: 31127727). This variant is present in population databases (rs539439844, gnomAD 0.009%). This sequence change replaces tryptophan, which is neutral and slightly polar, with cysteine, which is neutral and slightly polar, at codon 6705 of the SYNE1 protein (p.Trp6705Cys). 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive.
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000399546 SCV001952837 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000399546 SCV001963720 uncertain significance not provided no assertion criteria provided clinical testing

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