Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000812833 | SCV000953159 | uncertain significance | Congenital myasthenic syndrome 8 | 2023-12-06 | criteria provided, single submitter | clinical testing | This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 1918 of the AGRN protein (p.Tyr1918Cys). This variant is present in population databases (rs779519955, gnomAD 0.03%). 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: 656422). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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. |
Ambry Genetics | RCV002538136 | SCV003720755 | uncertain significance | Inborn genetic diseases | 2021-07-26 | criteria provided, single submitter | clinical testing | The c.5753A>G (p.Y1918C) alteration is located in exon 34 (coding exon 34) of the AGRN gene. This alteration results from a A to G substitution at nucleotide position 5753, causing the tyrosine (Y) at amino acid position 1918 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |