ClinVar Miner

Submissions for variant NM_198576.4(AGRN):c.5725A>C (p.Ser1909Arg)

dbSNP: rs1553178845
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000559740 SCV000653975 uncertain significance Congenital myasthenic syndrome 8 2017-04-25 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with an AGRN-related disease. This sequence change replaces serine with arginine at codon 1909 of the AGRN protein (p.Ser1909Arg). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and arginine.

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