ClinVar Miner

Submissions for variant NM_152594.3(SPRED1):c.423+2T>C (rs1555391161)

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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 RCV000604056 SCV000712328 pathogenic Legius syndrome 2016-06-24 criteria provided, single submitter clinical testing The c.423+2T>C variant in SPRED1 has not been previously reported in individuals with a RASopathy or in large population studies. This variant occurs in the inv ariant region (+/- 1,2) of the splice consensus sequence and is predicted to cau se altered splicing leading to an abnormal or absent protein. Heterozygous loss of function of the SPRED1 gene is an established disease mechanism in individual s with Legius syndrome. In summary, this variant meets our criteria to be classi fied as pathogenic for Legius syndrome in an autosomal dominant manner based upo n absence from controls and the predicted impact of the protein.

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