ClinVar Miner

Submissions for variant NM_198576.4(AGRN):c.4838G>A (p.Cys1613Tyr)

gnomAD frequency: 0.00001  dbSNP: rs1347129558
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001057639 SCV001222142 uncertain significance Congenital myasthenic syndrome 8 2019-01-06 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 AGRN-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces cysteine with tyrosine at codon 1613 of the AGRN protein (p.Cys1613Tyr). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and tyrosine.

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