ClinVar Miner

Submissions for variant NM_198576.4(AGRN):c.6022G>A (p.Ala2008Thr)

gnomAD frequency: 0.00005  dbSNP: rs766962416
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000696597 SCV000825162 uncertain significance Congenital myasthenic syndrome 8 2018-01-29 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with AGRN-related disease. This variant is present in population databases (rs766962416, ExAC 0.03%). This sequence change replaces alanine with threonine at codon 2008 of the AGRN protein (p.Ala2008Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine.
GenomeConnect, ClinGen RCV000696597 SCV001423262 not provided Congenital myasthenic syndrome 8 no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 02-08-2018 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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