ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.2723G>A (p.Trp908Ter)

gnomAD frequency: 0.00001  dbSNP: rs794729216
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DASA RCV001836638 SCV002097276 pathogenic Generalized epilepsy with febrile seizures plus, type 7 2022-02-14 criteria provided, single submitter clinical testing The c.2690G>A;p.(Trp897*) variant creates a premature translational stop signal in the SCN9A gene. It is expected to result in an absent or disrupted protein product - PVS1. This sequence change has been observed in affected individual(s) and ClinVar contains an entry for this variant (ClinVar ID: 202190; PMID: 25309764) - PS4_moderate. This variant is not present in population databases (rs794729216, gnomAD; ABraOM no frequency - http://abraom.ib.usp.br/) - PM2. In summary, the currently available evidence indicates that the variant is pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV001852381 SCV002126963 pathogenic Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7 2021-10-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp897*) in the SCN9A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SCN9A are known to be pathogenic (PMID: 17470132, 19304393). This variant is not present in population databases (ExAC no frequency). This premature translational stop signal has been observed in individuals with congenital insensitivity to pain (PMID: 17167479, 30795902). It has also been observed to segregate with disease in related individuals. This variant is also known as p.Y897*. ClinVar contains an entry for this variant (Variation ID: 202190). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic.
Mendelics RCV000184036 SCV000236567 pathogenic Channelopathy-associated congenital insensitivity to pain, autosomal recessive 2013-11-26 no assertion criteria provided clinical testing

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