ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.460_465del (p.Arg154_Thr155del)

dbSNP: rs1555598888
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666330 SCV000790603 uncertain significance Glycogen storage disease, type II 2017-03-29 criteria provided, single submitter clinical testing
Invitae RCV000666330 SCV001228765 uncertain significance Glycogen storage disease, type II 2021-08-27 criteria provided, single submitter clinical testing This variant, c.460_465del, results in the deletion of 2 amino acid(s) of the GAA protein (p.Arg154_Thr155del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with infantile-onset Pompe disease (PMID: 22252923, 29122469). ClinVar contains an entry for this variant (Variation ID: 551306). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Genome-Nilou Lab RCV000666330 SCV002027215 uncertain significance Glycogen storage disease, type II 2021-09-05 criteria provided, single submitter clinical testing

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