ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1905C>A (p.Asn635Lys) (rs1414146587)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000780271 SCV000917398 pathogenic Glycogen storage disease, type II 2018-10-26 criteria provided, single submitter clinical testing Variant summary: GAA c.1905C>A (p.Asn635Lys) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 4.2e-06 in 237820 control chromosomes. c.1905C>A has been reported in the literature in multiple individuals affected with Glycogen Storage Disease, Type 2 (Pompe Disease). These data indicate that the variant is very likely to be associated with disease. At least one publication reports experimental evidence evaluating an impact on protein function. The most pronounced variant effect was estimated to result in 10%-<30% of normal activity. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic.

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