ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.4399-6C>A

dbSNP: rs1553474406
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001453251 SCV001656935 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7 2022-06-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002330933 SCV002627979 uncertain significance Inborn genetic diseases 2021-12-23 criteria provided, single submitter clinical testing The c.4366-6C>A intronic variant results from a C to A substitution 6 nucleotides upstream from coding exon 24 in the SCN9A gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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