ClinVar Miner

Submissions for variant NM_006950.3(SYN1):c.506G>A (p.Arg169Gln)

gnomAD frequency: 0.00007  dbSNP: rs775109362
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194726 SCV000249076 uncertain significance not specified 2014-06-05 criteria provided, single submitter clinical testing
Invitae RCV000815008 SCV000955448 uncertain significance Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders 2023-11-10 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 169 of the SYN1 protein (p.Arg169Gln). This variant is present in population databases (rs775109362, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with SYN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 212332). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
CeGaT Center for Human Genetics Tuebingen RCV003436998 SCV004165393 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing SYN1: BS2

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