ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.22282A>C (p.Lys7428Gln)

gnomAD frequency: 0.00001  dbSNP: rs771618181
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000497676 SCV000590273 uncertain significance not provided 2017-06-07 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the SYNE1 gene. The K7357Q variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The K7357Q 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 K7357Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties.. This substitution occurs at a position that is conserved across species and in silico analysis predicts this variant is probably damaging to the protein structure/function. However, missense variants in nearby residues have not been reported in Human Gene Mutation Database in association with SYNE1-related disorder (Stenson et al., 2014). Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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