ClinVar Miner

Submissions for variant NM_006922.4(SCN3A):c.3998C>T (p.Pro1333Leu)

dbSNP: rs1057520753
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000420271 SCV000517296 pathogenic not provided 2015-05-19 criteria provided, single submitter clinical testing The P1333L variant in the SCN3A gene has not been reported previously as a pathogenic variantnor as a benign polymorphism, to our knowledge. The P1333L substitution was not observed in approximately6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project,indicating it is not a common benign variant in these populations. The P1333L variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residuesdiffer in some properties. This substitution occurs at a position that is conserved across species. In silicoanalysis predicts this variant is probably damaging to the protein structure/function. A missense variant in a nearby residue (M1323V) has been reported in association with focal epilepsy (Vanoye et al., 2014),supporting the functional importance of this region of the protein. Therefore, we interpret the P1333L variant as pathogenic.
Institute of Human Genetics, University of Leipzig Medical Center RCV000625713 SCV002044410 likely pathogenic Developmental and epileptic encephalopathy, 62 2021-12-21 criteria provided, single submitter research
OMIM RCV000625713 SCV000746213 pathogenic Developmental and epileptic encephalopathy, 62 2020-11-17 no assertion criteria provided literature only
Channelopathy-Associated Epilepsy Research Center RCV003992291 SCV004809316 not provided Early infantile epileptic encephalopathy with suppression bursts no assertion provided literature only

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