ClinVar Miner

Submissions for variant NM_152594.3(SPRED1):c.424-5A>G

gnomAD frequency: 0.00004  dbSNP: rs752656697
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000612346 SCV000713839 uncertain significance not specified 2018-01-17 criteria provided, single submitter clinical testing The c.424-5A>G variant in SPRED1 has not been previously reported in individuals with clinical features of RASopathy, but has been identified in 3/24030 African chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinst itute.org; dbSNP rs752656697). This variant is located in the 3' splice region. Computational tools do not suggest an impact to splicing. However, this informat ion is not predictive enough to rule out pathogenicity. In summary, the clinical significance of the c.424-5A>G variant is uncertain. ACMG/AMP Criteria applied: BP7.
Invitae RCV001456359 SCV001660137 likely benign Legius syndrome 2023-04-25 criteria provided, single submitter clinical testing

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