ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.447G>A (p.Thr149=) (rs2289536)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000117107 SCV000227030 benign not specified 2015-05-06 criteria provided, single submitter clinical testing
GeneDx RCV000117107 SCV000517754 benign not specified 2016-11-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago RCV000117107 SCV000151261 benign not specified 2016-04-19 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000402346 SCV000407259 uncertain significance Glycogen storage disease, type II 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000117107 SCV000919369 benign not specified 2018-01-25 criteria provided, single submitter clinical testing Variant summary: The GAA c.447G>A (p.Thr149Thr) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change that is not located in any known domain (InterPro). One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 1372/272790 control chromosomes (12 homozygotes) at a frequency of 0.0050295, which is approximately equal to the estimated maximal expected allele frequency of a pathogenic GAA variant (0.0042205), suggesting this variant is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign.
Invitae RCV000402346 SCV000626613 benign Glycogen storage disease, type II 2018-01-03 criteria provided, single submitter clinical testing
PreventionGenetics RCV000117107 SCV000302688 benign not specified criteria provided, single submitter clinical testing

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