ClinVar Miner

Submissions for variant NM_198576.4(AGRN):c.5837C>T (p.Pro1946Leu)

dbSNP: rs771364268
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000651354 SCV000773205 uncertain significance Congenital myasthenic syndrome 8 2022-01-14 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 541146). This variant has not been reported in the literature in individuals affected with AGRN-related conditions. This variant is present in population databases (rs771364268, gnomAD 0.001%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1946 of the AGRN protein (p.Pro1946Leu). 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.
PreventionGenetics, part of Exact Sciences RCV003980269 SCV004788885 likely benign AGRN-related condition 2019-02-19 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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