ClinVar Miner

Submissions for variant NM_198576.4(AGRN):c.3950G>A (p.Arg1317His)

gnomAD frequency: 0.00014  dbSNP: rs376518159
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001059491 SCV001224115 uncertain significance Congenital myasthenic syndrome 8 2024-01-24 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 1317 of the AGRN protein (p.Arg1317His). This variant is present in population databases (rs376518159, gnomAD 0.1%). 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: 854433). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The histidine 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.
Ambry Genetics RCV002553862 SCV003704990 uncertain significance Inborn genetic diseases 2022-11-17 criteria provided, single submitter clinical testing The c.3950G>A (p.R1317H) alteration is located in exon 23 (coding exon 23) of the AGRN gene. This alteration results from a G to A substitution at nucleotide position 3950, causing the arginine (R) at amino acid position 1317 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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