ClinVar Miner

Submissions for variant NM_198576.4(AGRN):c.5023G>A (p.Gly1675Ser)

gnomAD frequency: 0.00001  dbSNP: rs764160563
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001857792 SCV002250484 uncertain significance Congenital myasthenic syndrome 8 2021-03-23 criteria provided, single submitter clinical testing 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 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"). This variant has been observed in individual(s) with clinical features of congenital myasthenic syndrome (PMID: 28221305, Invitae). ClinVar contains an entry for this variant (Variation ID: 243039). This variant is present in population databases (rs764160563, ExAC 0.04%). This sequence change replaces glycine with serine at codon 1675 of the AGRN protein (p.Gly1675Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine.
GeneReviews RCV000235025 SCV000292409 not provided Congenital myasthenic syndrome no assertion provided literature only

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