ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.24488T>C (p.Ile8163Thr) (rs139643725)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000713644 SCV000706202 uncertain significance not provided 2018-01-24 criteria provided, single submitter clinical testing
Invitae RCV000698908 SCV000827598 uncertain significance Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2018-09-06 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 8092 of the SYNE1 protein (p.Ile8092Thr). The isoleucine residue is highly conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is present in population databases (rs139643725, ExAC 0.07%). 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 do not agree on the potential impact of this missense change (SIFT: "Deleterious"; 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.
Athena Diagnostics Inc RCV000713644 SCV000844271 uncertain significance not provided 2018-03-06 criteria provided, single submitter clinical testing

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