ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1106T>C (p.Leu369Pro)

dbSNP: rs2039149745
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001337394 SCV001530997 uncertain significance Glycogen storage disease, type II 2020-12-29 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 369 of the GAA protein (p.Leu369Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. 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. This variant has been reported to affect GAA protein function (PMID: 23430493). This variant has been observed in individual(s) with Pompe disease (PMID: 23430493). This variant is not present in population databases (ExAC no frequency).
Mendelics RCV001337394 SCV002516424 pathogenic Glycogen storage disease, type II 2022-05-04 criteria provided, single submitter clinical testing

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