ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.24449A>G (p.Lys8150Arg)

gnomAD frequency: 0.00003  dbSNP: rs557350925
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000597245 SCV000704603 uncertain significance not provided 2017-01-04 criteria provided, single submitter clinical testing
GeneDx RCV000597245 SCV001991332 uncertain significance not provided 2019-02-28 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this missense substitution does not alter protein structure/function; However, in silico analysis using splice predictors is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity RCV000597245 SCV003826337 likely benign not provided 2023-07-12 criteria provided, single submitter clinical testing

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