ClinVar Miner

Submissions for variant NM_198576.4(AGRN):c.2496C>G (p.Asn832Lys)

gnomAD frequency: 0.00029  dbSNP: rs142252759
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000797811 SCV000937392 uncertain significance Congenital myasthenic syndrome 8 2022-08-08 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 832 of the AGRN protein (p.Asn832Lys). This variant is present in population databases (rs142252759, 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: 643985). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 RCV002537056 SCV003723958 uncertain significance Inborn genetic diseases 2021-12-07 criteria provided, single submitter clinical testing The c.2496C>G (p.N832K) alteration is located in exon 14 (coding exon 14) of the AGRN gene. This alteration results from a C to G substitution at nucleotide position 2496, causing the asparagine (N) at amino acid position 832 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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