ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.1277T>A (p.Met426Lys) (rs200415928)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000463481 SCV000559265 likely benign Hereditary sensory and autonomic neuropathy type IIA; Generalized epilepsy with febrile seizures plus, type 7 2019-12-31 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768079 SCV000898960 uncertain significance Primary erythromelalgia; Paroxysmal extreme pain disorder; Severe myoclonic epilepsy in infancy; Indifference to pain, congenital, autosomal recessive; Generalized epilepsy with febrile seizures plus, type 7 2017-10-11 criteria provided, single submitter clinical testing SCN9A NM_002977.3 exon 10 p.Met426Lys (c.1277T>A): This variant has not been reported in the literature but is present in 0.1% (46/24002) of African alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs200415928). This variant is present in ClinVar (Variation ID:415032). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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