ClinVar Miner

Submissions for variant NM_198576.4(AGRN):c.4799C>T (p.Ala1600Val)

gnomAD frequency: 0.00001  dbSNP: rs370833536
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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 RCV000651385 SCV000773236 uncertain significance Congenital myasthenic syndrome 8 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 1600 of the AGRN protein (p.Ala1600Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs370833536, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with AGRN-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
GenomeConnect - Invitae Patient Insights Network RCV000651385 SCV001749918 not provided Congenital myasthenic syndrome 8 no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 12-18-2017 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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