ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.3584C>G (p.Thr1195Arg)

gnomAD frequency: 0.00010  dbSNP: rs148930543
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000318309 SCV000346085 uncertain significance Glycogen storage disease type III 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae RCV000318309 SCV000752129 uncertain significance Glycogen storage disease type III 2022-08-21 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with arginine, which is basic and polar, at codon 1195 of the AGL protein (p.Thr1195Arg). This variant is present in population databases (rs148930543, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with AGL-related conditions. ClinVar contains an entry for this variant (Variation ID: 291343). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Genome-Nilou Lab RCV000318309 SCV002055443 uncertain significance Glycogen storage disease type III 2021-07-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV003258736 SCV003946121 uncertain significance Inborn genetic diseases 2023-06-02 criteria provided, single submitter clinical testing The c.3584C>G (p.T1195R) alteration is located in exon 26 (coding exon 25) of the AGL gene. This alteration results from a C to G substitution at nucleotide position 3584, causing the threonine (T) at amino acid position 1195 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000318309 SCV001456547 uncertain significance Glycogen storage disease type III 2020-09-16 no assertion criteria provided clinical testing

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