ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.3952G>C (p.Glu1318Gln) (rs201144728)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000429081 SCV000535259 uncertain significance not provided 2016-12-27 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the SYNE1 gene. The E1325Q variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The E1325Q variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The E1325Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. However, this substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Illumina Clinical Services Laboratory,Illumina RCV000289316 SCV000461503 likely benign Cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000332375 SCV000461504 likely benign Emery-Dreifuss muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing

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