ClinVar Miner

Submissions for variant NM_198576.4(AGRN):c.431G>A (p.Arg144Gln)

dbSNP: rs760143672
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002038745 SCV002311549 uncertain significance Congenital myasthenic syndrome 8 2022-08-23 criteria provided, single submitter clinical testing 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: "Benign"; 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 1523274). This variant has not been reported in the literature in individuals affected with AGRN-related conditions. This variant is present in population databases (rs760143672, gnomAD 0.0009%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 144 of the AGRN protein (p.Arg144Gln).

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