ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.5392G>T (p.Glu1798Ter) (rs770416478)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000236372 SCV000294144 likely pathogenic not provided 2016-04-26 criteria provided, single submitter clinical testing The E1787X nonsense variant in the SCN9A gene is predicted to cause loss of normal protein function either through protein truncation as the last 191 amino acid residues of the protein are lost. The E1797X was It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Although this pathogenic variant has not been reported previously to our knowledge, its presence is consistent with a diagnosis of congenital indifference to pain (CIP)

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