ClinVar Miner

Submissions for variant NM_198576.4(AGRN):c.1864C>T (p.Arg622Trp)

gnomAD frequency: 0.00019  dbSNP: rs142143178
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000806068 SCV000946048 uncertain significance Congenital myasthenic syndrome 8 2022-08-01 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 622 of the AGRN protein (p.Arg622Trp). This variant is present in population databases (rs142143178, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with AGRN-related conditions. ClinVar contains an entry for this variant (Variation ID: 650838). 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"). 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.
Revvity Omics, Revvity Omics RCV000806068 SCV003823040 uncertain significance Congenital myasthenic syndrome 8 2022-12-22 criteria provided, single submitter clinical testing

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