ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1192del (p.Leu398fs)

dbSNP: rs1057516546
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001090259 SCV001245687 pathogenic not provided 2019-07-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003502586 SCV004296863 pathogenic Glycogen storage disease, type II 2023-03-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 870685). This premature translational stop signal has been observed in individual(s) with clinical features of GAA-related conditions (PMID: 29149851). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu398Trpfs*42) in the GAA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GAA are known to be pathogenic (PMID: 18425781, 22252923).

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