ClinVar Miner

Submissions for variant NM_152594.3(SPRED1):c.-12G>T (rs371200183)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000222155 SCV000272453 uncertain significance not specified 2015-08-10 criteria provided, single submitter clinical testing The c.-12G>T variant in SPRED1 has been not previously reported in individuals w ith Legius syndrome. It has been identified in 1/1760 East Asian chromosomes and 1/8404 South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http: //exac.broadinstitute.org; dbSNP rs371200183). This variant is located in the 5' UTR and is not part of the translation initiation (Kozak) sequence, but its eff ect on translation is unknown. In summary, the clinical significance of the c.-1 2G>T variant is uncertain.

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