ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.5003del (p.Phe1668fs)

dbSNP: rs1064796620
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486948 SCV000573507 likely pathogenic not provided 2022-07-18 criteria provided, single submitter clinical testing Frameshift variant is predicted to result in protein truncation, as the last 338 amino acids are replaced with 36 different amino acids, and other loss-of-function variants have been reported downstream in HGMD; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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