ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.2351C>G (p.Thr784Ser)

gnomAD frequency: 0.00004  dbSNP: rs200624920
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000235887 SCV000293027 uncertain significance not provided 2024-10-01 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV000240437 SCV000299169 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7 2024-10-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765525 SCV000896839 uncertain significance Primary erythromelalgia; Neuropathy, hereditary sensory and autonomic, type 2A; Paroxysmal extreme pain disorder; Severe myoclonic epilepsy in infancy; Channelopathy-associated congenital insensitivity to pain, autosomal recessive; Generalized epilepsy with febrile seizures plus, type 7 2018-10-31 criteria provided, single submitter clinical testing
Baylor Genetics RCV001336522 SCV001529924 uncertain significance Generalized epilepsy with febrile seizures plus, type 7 2018-11-08 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV002444935 SCV002734391 uncertain significance Inborn genetic diseases 2019-12-09 criteria provided, single submitter clinical testing The p.T773S variant (also known as c.2318C>G), located in coding exon 14 of the SCN9A gene, results from a C to G substitution at nucleotide position 2318. The threonine at codon 773 is replaced by serine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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