ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1188C>G (p.Phe396Leu)

gnomAD frequency: 0.00006  dbSNP: rs756126944
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000295782 SCV000344693 uncertain significance not provided 2016-08-09 criteria provided, single submitter clinical testing
Invitae RCV000794399 SCV000933804 uncertain significance Glycogen storage disease, type II 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 396 of the GAA protein (p.Phe396Leu). This variant is present in population databases (rs756126944, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with GAA-related conditions. ClinVar contains an entry for this variant (Variation ID: 290186). 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.
Genome-Nilou Lab RCV000794399 SCV002027255 uncertain significance Glycogen storage disease, type II 2021-09-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV000794399 SCV002091998 uncertain significance Glycogen storage disease, type II 2019-10-28 no assertion criteria provided clinical testing

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