ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1115A>T (p.His372Leu) (rs1057516520)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411518 SCV000485819 likely pathogenic Glycogen storage disease, type II 2016-02-18 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000411518 SCV001362545 pathogenic Glycogen storage disease, type II 2019-10-18 criteria provided, single submitter clinical testing Variant summary: GAA c.1115A>T (p.His372Leu) results in a non-conservative amino acid change located in the Glycoside hydrolase family 31 domain (IPR000322) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 248930 control chromosomes (gnomAD). c.1115A>T has been reported in the literature in individuals affected with Glycogen Storage Disease, Type 2 (Pompe Disease) (VandenHout__2004, Joshi_2008, vanGelder_2014, Chen_2017, Lin_2017, Lee_2019). These data indicate that the variant is likely to be associated with disease. Two publications report this variant has an impact on protein function and results in <10% of normal GAA activity (VandenHout__2004, Lin_2017). One ClinVar submitter (evaluation after 2014) cites the variant as likely pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.

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