ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.11669T>A (p.Val3890Asp)

dbSNP: rs750372071
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000822746 SCV000963562 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2018-07-29 criteria provided, single submitter clinical testing This sequence change replaces valine with aspartic acid at codon 3875 of the SYNE1 protein (p.Val3875Asp). The valine residue is moderately conserved and there is a large physicochemical difference between valine and aspartic acid. This variant is present in population databases (rs750372071, ExAC 0.04%). This variant has not been reported in the literature in individuals with SYNE1-related disease. 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 C0"). 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.
Revvity Omics, Revvity Omics RCV003141859 SCV003824659 uncertain significance not provided 2021-01-27 criteria provided, single submitter clinical testing

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