Submissions for variant NM_001349253.2(SCN11A):c.5207G>T (p.Gly1736Val)

gnomAD frequency: 0.00151  dbSNP: rs143852849

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000540407	SCV000654762	likely benign	Hereditary sensory and autonomic neuropathy type 7; Familial episodic pain syndrome with predominantly lower limb involvement	2024-01-19	criteria provided, single submitter	clinical testing
GeneDx	RCV001653919	SCV001866683	benign	not provided	2018-11-28	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 26423924)
CeGaT Center for Human Genetics Tuebingen	RCV001653919	SCV002544792	benign	not provided	2023-04-01	criteria provided, single submitter	clinical testing	SCN11A: BS1, BS2
Ambry Genetics	RCV002341454	SCV002640566	likely benign	Inborn genetic diseases	2019-09-12	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.
Clinical Genetics, Academic Medical Center	RCV001653919	SCV001924012	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001653919	SCV001958476	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001653919	SCV001968235	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003962591	SCV004789717	likely benign	SCN11A-related disorder	2021-04-08	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).