ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.2104C>T (p.Arg702Cys) (rs786204645)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169431 SCV000220843 likely pathogenic Glycogen storage disease, type II 2014-10-28 criteria provided, single submitter literature only
Invitae RCV000169431 SCV000942734 pathogenic Glycogen storage disease, type II 2018-10-30 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 702 of the GAA protein (p.Arg702Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals with findings that are highly specific for GAA-related conditions (PMID: 14972326, 24158270). ClinVar contains an entry for this variant (Variation ID: 189040). Experimental studies have shown that this missense change has a deleterious effect on protein function (PMID: 14972326, 19862843). This variant disrupts the p.Arg702 acid residue in GAA. Other variants that disrupt this residue have been observed in affected individuals (PMID: 18211760, 18425781, 26310554), suggesting that it is a clinically significant residue. As a result, variants that disrupt this residue are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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