ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.8737G>T (p.Ala2913Ser)

gnomAD frequency: 0.00016  dbSNP: rs151300068
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000370136 SCV000339565 uncertain significance not provided 2016-02-23 criteria provided, single submitter clinical testing
Invitae RCV002519216 SCV003296459 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2023-05-15 criteria provided, single submitter clinical testing This variant is present in population databases (rs151300068, gnomAD 0.05%). 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 286224). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 2920 of the SYNE1 protein (p.Ala2920Ser).
Revvity Omics, Revvity RCV000370136 SCV003826435 uncertain significance not provided 2020-06-09 criteria provided, single submitter clinical testing

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