ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1814del (p.Gly605fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV002308272 SCV002601966 likely pathogenic Glycogen storage disease, type II 2022-03-14 criteria provided, single submitter clinical testing NM_000152.3(GAA):c.1814delG(G605Afs*91) is expected to be pathogenic in the context of Pompe disease. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in GAA, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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