ClinVar Miner

Submissions for variant NM_198576.4(AGRN):c.664G>A (p.Glu222Lys)

gnomAD frequency: 0.00001  dbSNP: rs1242198480
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001236973 SCV001409716 uncertain significance Congenital myasthenic syndrome 8 2019-08-25 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with AGRN-related disease. 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 do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change replaces glutamic acid with lysine at codon 222 of the AGRN protein (p.Glu222Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine.

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