ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.2444A>G (p.Asn815Ser)

gnomAD frequency: 0.00002  dbSNP: rs1365945556
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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 RCV001245038 SCV001418299 uncertain significance Glycogen storage disease, type II 2022-07-02 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 815 of the GAA protein (p.Asn815Ser). This variant is present in population databases (no rsID available, gnomAD 0.009%). 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: 969645). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
GeneDx RCV001786455 SCV002028845 uncertain significance not provided 2021-05-26 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004034812 SCV003531556 uncertain significance Cardiovascular phenotype 2022-06-10 criteria provided, single submitter clinical testing The c.2444A>G (p.N815S) alteration is located in exon 17 (coding exon 16) of the GAA gene. This alteration results from a A to G substitution at nucleotide position 2444, causing the asparagine (N) at amino acid position 815 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV001786455 SCV003828480 uncertain significance not provided 2021-06-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001245038 SCV002094458 uncertain significance Glycogen storage disease, type II 2020-03-14 no assertion criteria provided clinical testing

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