ClinVar Miner

Submissions for variant NM_006950.3(SYN1):c.79C>T (p.Arg27Cys)

dbSNP: rs2057942233
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001204042 SCV001375228 uncertain significance Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders 2019-08-22 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 insufficient coverage at this position in the ExAC database. This sequence change replaces arginine with cysteine at codon 27 of the SYN1 protein (p.Arg27Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine.

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