ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.3391del (p.Ser1131fs)

dbSNP: rs1064796203
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000487276 SCV000572697 pathogenic not provided 2017-01-30 criteria provided, single submitter clinical testing The c.3391delA variant in the SCN2A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.3391delA variant causes a frameshift starting with codon Serine 1131, changes this amino acid to an Alanine residue, and creates a premature Stop codon at position 5 of the new reading frame, denoted p.Ser1131AlafsX5. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.3391delA 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. We interpret c.3391delA as a pathogenic variant.
GenomeConnect - Simons Searchlight RCV001265503 SCV001443647 pathogenic Complex neurodevelopmental disorder 2018-08-13 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2018-08-13 and interpreted as Pathogenic. Variant was initially reported on 2017-02-06 by GTR ID of laboratory name 26957. The reporting laboratory might also submit to ClinVar.

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