ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.859-21G>A (rs185883087)

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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 RCV000589719 SCV000695668 benign not provided 2017-01-09 criteria provided, single submitter clinical testing Variant summary: The GAA c.859-21G>A variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. This variant was found in 173/104790 control chromosomes, predominantly observed in the African subpopulation at a frequency of 0.0176121 (154/8744). This frequency is about 4 times the estimated maximal expected allele frequency of a pathogenic GAA variant (0.0042205), suggesting this is likely a benign polymorphism found primarily in the populations of African origin. 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.

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