ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1465G>A (p.Asp489Asn) (rs398123169)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000173646 SCV000791020 likely pathogenic Glycogen storage disease, type II 2017-04-19 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000790665 SCV000224781 pathogenic not provided 2013-03-18 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000173646 SCV000894161 likely pathogenic Glycogen storage disease, type II 2018-10-31 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000173646 SCV000695644 pathogenic Glycogen storage disease, type II 2017-06-30 criteria provided, single submitter clinical testing Variant summary: The GAA c.1465G>A (p.Asp489Asn) variant involves the alteration of a conserved nucleotide located in the Glycoside hydrolase superfamily domain of the protein (InterPro). 4/5 in silico tools predict a damaging outcome for this variant. This variant was found in 2/120924 control chromosomes at a frequency of 0.0000165, which does not exceed the estimated maximal expected allele frequency of a pathogenic GAA variant (0.0042205). This variant has been reported in multiple affected individuals and GAA activity testing confirm the variant results in deficiency. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant is classified as pathogenic.

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