ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.17029T>C (p.Ser5677Pro)

gnomAD frequency: 0.00003  dbSNP: rs373679435
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000823878 SCV000964749 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2021-08-30 criteria provided, single submitter clinical testing 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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with SYNE1-related disease. This variant is present in population databases (rs373679435, ExAC 0.02%). This sequence change replaces serine with proline at codon 5606 of the SYNE1 protein (p.Ser5606Pro). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and proline. 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 RCV003141861 SCV003825204 uncertain significance not provided 2019-02-05 criteria provided, single submitter clinical testing

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