ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.781G>A (p.Val261Ile)

gnomAD frequency: 0.00001  dbSNP: rs144069436
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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) RCV000595193 SCV000705322 uncertain significance not provided 2017-01-09 criteria provided, single submitter clinical testing
Invitae RCV000796969 SCV000936505 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 268 of the SYNE1 protein (p.Val268Ile). The valine residue is moderately conserved and there is a small physicochemical difference between valine and isoleucine. This variant is present in population databases (rs144069436, ExAC 0.04%). 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: 499695). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; 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 RCV000595193 SCV003824037 uncertain significance not provided 2019-09-27 criteria provided, single submitter clinical testing

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