ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.955G>A (p.Asp319Asn)

dbSNP: rs1359009455
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001308498 SCV001497953 uncertain significance Glycogen storage disease, type II 2022-07-20 criteria provided, single submitter clinical testing 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1010798). This variant has not been reported in the literature in individuals affected with GAA-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 319 of the GAA protein (p.Asp319Asn). This variant also falls at the last nucleotide of exon 5, which is part of the consensus splice site for this exon.
Natera, Inc. RCV001308498 SCV002091983 uncertain significance Glycogen storage disease, type II 2020-06-18 no assertion criteria provided clinical testing

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