Submissions for variant NM_002506.3(NGF):c.239G>A (p.Arg80Gln)

gnomAD frequency: 0.01173  dbSNP: rs11466111

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000322937	SCV000347413	benign	Congenital sensory neuropathy with selective loss of small myelinated fibers	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000322937	SCV000626987	benign	Congenital sensory neuropathy with selective loss of small myelinated fibers	2025-02-03	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000322937	SCV000743620	likely benign	Congenital sensory neuropathy with selective loss of small myelinated fibers	2016-01-28	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000322937	SCV000884258	benign	Congenital sensory neuropathy with selective loss of small myelinated fibers	2023-10-26	criteria provided, single submitter	clinical testing
GeneDx	RCV001706427	SCV001846359	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000322937	SCV004050728	likely benign	Congenital sensory neuropathy with selective loss of small myelinated fibers	2023-04-11	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001706427	SCV005259314	likely benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV001699337	SCV001917771	benign	not specified		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004549634	SCV004749228	benign	NGF-related disorder	2020-03-18	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).