ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.2481+128A>G (rs760656694)

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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 RCV000587074 SCV000695652 uncertain significance not provided 2016-11-25 criteria provided, single submitter clinical testing Variant summary: The c.2481+128A>G in GAA gene is a deep intronic change that involves a non-conserved nucleotide. 5/5 programs in Alamut predict that this variant does not affect normal splicing, however no functional studies supporting this notion were published at the time of evaluation. The frequency of this variant could not be obtained as there is no coverage of this position in ExAC, 1000Gs or ESP. The variant has not, to our knowledge, been reported in affected individuals via published reports or cited by a reputable database/clinical laboratory. Taking together, the variant was classified as VUS.

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