ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.2521C>T (p.Arg841Ter) (rs780673293)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000506153 SCV000605072 pathogenic not specified 2017-02-02 criteria provided, single submitter clinical testing
Invitae RCV001385121 SCV001584870 pathogenic Hereditary sensory and autonomic neuropathy type IIA; Generalized epilepsy with febrile seizures plus, type 7 2020-04-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg830*) in the SCN9A gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs780673293, ExAC 0.01%). This variant has been observed in individual(s) with autosomal recessive congenital insensitivity to pain (PMID: 17470132, 25253744). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 440257). Loss-of-function variants in SCN9A are known to be pathogenic (PMID: 17470132, 19304393). For these reasons, this variant has been classified as Pathogenic.

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