ClinVar Miner

Submissions for variant NM_198576.4(AGRN):c.2246C>G (p.Ala749Gly)

gnomAD frequency: 0.00004  dbSNP: rs777321497
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001054134 SCV001218433 uncertain significance Congenital myasthenic syndrome 8 2022-07-06 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 749 of the AGRN protein (p.Ala749Gly). This variant is present in population databases (rs777321497, gnomAD 0.005%). 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: 850048). 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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 RCV003283913 SCV003956086 uncertain significance Inborn genetic diseases 2023-05-23 criteria provided, single submitter clinical testing The c.2246C>G (p.A749G) alteration is located in exon 12 (coding exon 12) of the AGRN gene. This alteration results from a C to G substitution at nucleotide position 2246, causing the alanine (A) at amino acid position 749 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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