ClinVar Miner

Submissions for variant NM_005359.5(SMAD4):c.250-2A>G (rs1555685142)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000578818 SCV000680991 likely pathogenic not provided 2017-06-30 criteria provided, single submitter clinical testing Although the c.250-2 A>G variant in the SMAD4 gene has not been reported as a pathogenic or benign to ourknowledge, it destroys the canonical splice acceptor site in intron 2 and is predicted to cause abnormal gene splicing.Other splice site variants in the SMAD4 gene have been reported in the Human Gene Mutation Database inassociation with JPS (Stenson et al., 2014). Furthermore, the c.250-2 A>G variant is not observed in largepopulation cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server).In summary, c.250-2 A>G in the SMAD4 gene is interpreted as a likely pathogenic variant

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