ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.2308G>C (p.Gly770Arg) (rs149914040)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000812701 SCV000953023 uncertain significance Glycogen storage disease type III 2019-11-22 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 770 of the AGL protein (p.Gly770Arg). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and arginine. This variant also falls at the last nucleotide of exon 17 of the AGL coding sequence, which is part of the consensus splice site for this exon. This variant is present in population databases (rs149914040, ExAC 0.01%). This variant has not been reported in the literature in individuals with AGL-related disease. 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: "Probably Damaging"; Align-GVGD: "Class C0"). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000994054 SCV001147353 uncertain significance not provided 2018-09-01 criteria provided, single submitter clinical testing

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