ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.1555T>G (p.Tyr519Asp)

dbSNP: rs1651672111
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001321240 SCV001512062 uncertain significance Glycogen storage disease type III 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with aspartic acid at codon 519 of the AGL protein (p.Tyr519Asp). The tyrosine residue is weakly conserved and there is a large physicochemical difference between tyrosine and aspartic acid. This variant is not present in population databases (ExAC 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.
Natera, Inc. RCV001321240 SCV002091498 uncertain significance Glycogen storage disease type III 2020-10-29 no assertion criteria provided clinical testing

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