ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.649G>T (p.Glu217Ter)

dbSNP: rs1064795484
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481836 SCV000571333 likely pathogenic not provided 2017-04-21 criteria provided, single submitter clinical testing The E217X variant in the SMPD1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The E217X variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The E217X variant is a strong candidate for a pathogenic variant.

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