ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1309C>T (p.Arg437Cys) (rs770610356)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169488 SCV000220942 likely pathogenic Glycogen storage disease, type II 2014-12-10 criteria provided, single submitter literature only
Invitae RCV000169488 SCV000931738 pathogenic Glycogen storage disease, type II 2019-12-12 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 437 of the GAA protein (p.Arg437Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs770610356, ExAC 0.004%). This variant has been observed as homozygous or in combination with another GAA variant in individuals affected with glycogen storage disease (PMID: 12601120, 17805474, 29124014) including one individual in whom another pathogenic variant was observed on the opposite chromosome (in trans) from another pathogenic variant in an individual affected with glycogen storage disease (PMID: 12601120). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. ClinVar contains an entry for this variant (Variation ID: 189082). Experimental studies have shown that this missense change abrogates GAA activity (PMID: 12601120). For these reasons, this variant has been classified as Pathogenic.

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