ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.16349C>T (p.Ala5450Val)

dbSNP: rs181649865
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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) RCV000331100 SCV000345146 uncertain significance not provided 2016-09-01 criteria provided, single submitter clinical testing
Invitae RCV001069609 SCV001234788 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-09-27 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 290571). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. This variant is present in population databases (rs181649865, gnomAD 0.06%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 5379 of the SYNE1 protein (p.Ala5379Val).
Athena Diagnostics Inc RCV000331100 SCV001880821 uncertain significance not provided 2021-02-16 criteria provided, single submitter clinical testing
Revvity Omics, Revvity Omics RCV000331100 SCV003824684 uncertain significance not provided 2019-02-14 criteria provided, single submitter clinical testing

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