ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.866G>C (p.Ser289Thr)

gnomAD frequency: 0.00025  dbSNP: rs139190745
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000425903 SCV000518290 likely benign not specified 2017-01-25 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000873495 SCV001015491 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2023-02-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003922738 SCV004737746 likely benign SYNE1-related condition 2021-11-12 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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