ClinVar Miner

Submissions for variant NM_198576.4(AGRN):c.6001G>A (p.Val2001Met)

gnomAD frequency: 0.00001  dbSNP: rs775422356
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000526397 SCV000653987 uncertain significance Congenital myasthenic syndrome 8 2022-07-25 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 474166). This variant has not been reported in the literature in individuals affected with AGRN-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 2001 of the AGRN protein (p.Val2001Met). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The methionine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Fulgent Genetics, Fulgent Genetics RCV000526397 SCV000896777 uncertain significance Congenital myasthenic syndrome 8 2018-10-31 criteria provided, single submitter clinical testing

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