ClinVar Miner

Submissions for variant NM_006950.3(SYN1):c.1150A>G (p.Ile384Val)

gnomAD frequency: 0.00002  dbSNP: rs772936641
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001061846 SCV001226605 uncertain significance Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders 2019-12-11 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with SYN1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change replaces isoleucine with valine at codon 384 of the SYN1 protein (p.Ile384Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine.
Institute of Human Genetics, University of Leipzig Medical Center RCV001061846 SCV001428645 uncertain significance Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders 2018-04-30 criteria provided, single submitter clinical testing

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