ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.3972G>A (p.Arg1324=)

dbSNP: rs1057518117
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413810 SCV000491527 likely pathogenic not provided 2016-06-24 criteria provided, single submitter clinical testing The c.3972 G>A variant in the SCN2A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This 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. Several in-silico splice prediction models suggest that c.3972 G>A may damage the natural splice donor site of intron 21 and result in abnormal gene splicing; however, in the absence of RNA/functional studies, the actual effect of this sequence change is unknown. The c.3972 G>A variant is a strong candidate for a pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded.
Institute of Human Genetics, University Hospital Muenster RCV001838624 SCV002098367 likely pathogenic Dystonia 12 2022-02-11 criteria provided, single submitter clinical testing ACMG categories: PS1,PS2

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