ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.4494del (p.Tyr1497_Tyr1498insTer)

dbSNP: rs1553462224
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522352 SCV000621768 pathogenic not provided 2017-10-18 criteria provided, single submitter clinical testing The c.4494delC variant in the SCN2A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This deletion causes a frameshift starting with codon Tyrosine 1498 and changes this amino acid to a premature Stop codon, denoted p.Tyr1498Ter. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay.
GenomeConnect - Simons Searchlight RCV001265400 SCV001443526 pathogenic Complex neurodevelopmental disorder 2018-02-02 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2018-02-02 and interpreted as Pathogenic. Variant was initially reported on 2017-10-23 by GTR ID of laboratory name 26957. The reporting laboratory might also submit to ClinVar.

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