Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000692852 | SCV000820697 | uncertain significance | Congenital myasthenic syndrome 8 | 2022-07-05 | criteria provided, single submitter | clinical testing | 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. ClinVar contains an entry for this variant (Variation ID: 571650). This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 1270 of the AGRN protein (p.Thr1270Met). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with AGRN-related conditions. |
| Ambry Genetics | RCV004972863 | SCV005576857 | uncertain significance | Inborn genetic diseases | 2024-08-20 | criteria provided, single submitter | clinical testing | The c.3809C>T (p.T1270M) alteration is located in exon 23 (coding exon 23) of the AGRN gene. This alteration results from a C to T substitution at nucleotide position 3809, causing the threonine (T) at amino acid position 1270 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |