ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.16212G>A (p.Ala5404=)

gnomAD frequency: 0.00003  dbSNP: rs150928921
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000421038 SCV000533950 likely benign not specified 2016-11-23 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001472772 SCV001676910 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2018-05-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004533115 SCV004719656 likely benign SYNE1-related disorder 2021-08-09 no assertion criteria provided 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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