ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.623T>C (p.Leu208Pro)

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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 RCV001175569 SCV001339200 uncertain significance not specified 2020-03-12 criteria provided, single submitter clinical testing Variant summary: GAA c.623T>C (p.Leu208Pro) results in a non-conservative amino acid change located in the Glycoside hydrolase family 31, N-terminal domain of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 247666 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.623T>C has been reported in the literature in at least one individual affected with Glycogen Storage Disease, Type 2 (Pompe Disease, Laforet_2000). These data do not allow any conclusion about variant significance. At least one publication reports experimental evidence evaluating an impact on protein function, however, does not allow convincing conclusions about the variant effect (Flanagan_2009). 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 VUS-possibly pathogenic.

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