ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.2086C>T (p.Arg696Trp)

gnomAD frequency: 0.00001  dbSNP: rs574115531
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000865640 SCV001006638 likely benign not provided 2025-01-27 criteria provided, single submitter clinical testing
GeneDx RCV000865640 SCV001983852 uncertain significance not provided 2024-07-06 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000576903 SCV000676932 uncertain significance Developmental and epileptic encephalopathy, 18 2017-12-25 no assertion criteria provided clinical testing The observed variant c.2086C>T (p.R696W) has a minor allele frequency of 0.04% in 1000 Genome database and 0.05% in ExAC database. The in silico prediction of the mutation is damaging by MutationTaster2, SIFT, and probably damaging by PolyPhen2.

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