ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.188G>A (p.Arg63His)

gnomAD frequency: 0.00006  dbSNP: rs199958942
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001242350 SCV001415431 uncertain significance Glycogen storage disease type III 2022-09-01 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 63 of the AGL protein (p.Arg63His). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 967438). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The histidine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Baylor Genetics RCV001242350 SCV001526148 uncertain significance Glycogen storage disease type III 2018-10-11 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Genome-Nilou Lab RCV001242350 SCV002055080 uncertain significance Glycogen storage disease type III 2021-07-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002564026 SCV003713304 uncertain significance Inborn genetic diseases 2022-02-10 criteria provided, single submitter clinical testing The c.188G>A (p.R63H) alteration is located in exon 3 (coding exon 2) of the AGL gene. This alteration results from a G to A substitution at nucleotide position 188, causing the arginine (R) at amino acid position 63 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001242350 SCV002091428 uncertain significance Glycogen storage disease type III 2020-01-17 no assertion criteria provided clinical testing

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