ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1192C>A (p.Leu398Met)

dbSNP: rs369707231
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001068891 SCV001234025 uncertain significance Glycogen storage disease, type II 2022-08-03 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 398 of the GAA protein (p.Leu398Met). This variant is present in population databases (rs369707231, gnomAD 0.003%). 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: 862210). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 RCV002339343 SCV002642930 uncertain significance Cardiovascular phenotype 2021-06-25 criteria provided, single submitter clinical testing The p.L398M variant (also known as c.1192C>A), located in coding exon 6 of the GAA gene, results from a C to A substitution at nucleotide position 1192. The leucine at codon 398 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003490056 SCV004234857 uncertain significance not provided 2023-07-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001068891 SCV001453422 uncertain significance Glycogen storage disease, type II 2020-03-17 no assertion criteria provided clinical testing
GenomeConnect - Invitae Patient Insights Network RCV001068891 SCV001749752 not provided Glycogen storage disease, type II no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 04-21-2020 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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