Submissions for variant NM_001365536.1(SCN9A):c.3506A>C (p.Asn1169Thr)

gnomAD frequency: 0.00216  dbSNP: rs151241025

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000175432	SCV000226909	benign	not specified	2015-04-02	criteria provided, single submitter	clinical testing
GeneDx	RCV000460904	SCV000514588	likely benign	not provided	2020-09-29	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 22581653)
Labcorp Genetics (formerly Invitae), Labcorp	RCV001086465	SCV000559262	benign	Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7	2024-01-30	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000460904	SCV001152532	likely benign	not provided	2023-01-01	criteria provided, single submitter	clinical testing	SCN9A: BP4, BS2
Ambry Genetics	RCV002460053	SCV002618463	likely benign	Inborn genetic diseases	2019-11-15	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences	RCV004537385	SCV004737419	benign	SCN9A-related disorder	2019-05-29	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).