ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.2659A>G (p.Ile887Val)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002605863 SCV003492204 uncertain significance Glycogen storage disease type III 2022-06-27 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 887 of the AGL protein (p.Ile887Val). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with AGL-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.
Ambry Genetics RCV002602484 SCV003672085 uncertain significance Inborn genetic diseases 2022-12-21 criteria provided, single submitter clinical testing The c.2659A>G (p.I887V) alteration is located in exon 20 (coding exon 19) of the AGL gene. This alteration results from a A to G substitution at nucleotide position 2659, causing the isoleucine (I) at amino acid position 887 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV002605863 SCV004050013 uncertain significance Glycogen storage disease type III 2023-04-11 criteria provided, single submitter clinical testing

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