ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.6812C>T (p.Pro2271Leu)

gnomAD frequency: 0.00012  dbSNP: rs555536675
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000362010 SCV000335967 uncertain significance not provided 2017-03-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000362010 SCV000892759 uncertain significance not provided 2018-07-01 criteria provided, single submitter clinical testing
Invitae RCV000807658 SCV000947723 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2023-11-27 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 2278 of the SYNE1 protein (p.Pro2278Leu). This variant is present in population databases (rs555536675, gnomAD 0.09%). 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: 283699). 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. 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.
GeneDx RCV000362010 SCV002512792 uncertain significance not provided 2022-04-15 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity Omics RCV000362010 SCV003826468 uncertain significance not provided 2022-03-07 criteria provided, single submitter clinical testing

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