ClinVar Miner

Submissions for variant NM_198576.4(AGRN):c.5645C>T (p.Thr1882Ile)

gnomAD frequency: 0.00003  dbSNP: rs540580770
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000651370 SCV000773221 uncertain significance Congenital myasthenic syndrome 8 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 1882 of the AGRN protein (p.Thr1882Ile). This variant is present in population databases (rs540580770, gnomAD 0.2%). 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: 541162). 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 isoleucine 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 RCV000651370 SCV000896776 uncertain significance Congenital myasthenic syndrome 8 2018-10-31 criteria provided, single submitter clinical testing

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