ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.18082C>A (p.Leu6028Met)

dbSNP: rs1554341677
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523276 SCV000619490 uncertain significance not provided 2017-07-27 criteria provided, single submitter clinical testing The L5957M variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The L5957M variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, this substitution occurs at a position that is conserved across species, and in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.

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