ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.2238G>A (p.Trp746Ter) (rs1800312)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410158 SCV000486333 likely pathogenic Glycogen storage disease, type II 2016-05-11 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723386 SCV000700286 pathogenic not provided 2017-01-17 criteria provided, single submitter clinical testing
GeneDx RCV000723386 SCV000890192 pathogenic not provided 2018-08-16 criteria provided, single submitter clinical testing The W746X nonsense variant in the GAA gene has been reported previously in multiple unrelated individuals with GSDII(Kishnani et al. (2006; Berrier et al., 2015; Broomfield et al. 2016). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay.
Invitae RCV000410158 SCV000626551 pathogenic Glycogen storage disease, type II 2018-12-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp746*) in the GAA gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs1800312, ExAC 0.002%). This variant has been reported in combination with another GAA variant in several individuals affected with Pompe disease (PMID: 16860134, 22613277, 29122469). ClinVar contains an entry for this variant (Variation ID: 370904). This variant has been reported to affect GAA protein function (PMID: 23430493). Loss-of-function variants in GAA are known to be pathogenic (PMID: 18425781, 22252923). For these reasons, this variant has been classified as Pathogenic.

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