ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.1646A>G (p.Asn549Ser)

gnomAD frequency: 0.00006  dbSNP: rs909008103
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001208856 SCV001380265 uncertain significance Glycogen storage disease type III 2022-08-05 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 549 of the AGL protein (p.Asn549Ser). This variant is present in population databases (no rsID available, gnomAD 0.0009%). 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: 939450). 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 RCV003246756 SCV003942636 uncertain significance Inborn genetic diseases 2023-03-20 criteria provided, single submitter clinical testing The c.1646A>G (p.N549S) alteration is located in exon 13 (coding exon 12) of the AGL gene. This alteration results from a A to G substitution at nucleotide position 1646, causing the asparagine (N) at amino acid position 549 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV001208856 SCV004049969 uncertain significance Glycogen storage disease type III 2023-04-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001208856 SCV002091506 uncertain significance Glycogen storage disease type III 2020-01-24 no assertion criteria provided clinical testing

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