Submissions for variant NM_002529.4(NTRK1):c.2339G>A (p.Arg780Gln)

gnomAD frequency: 0.00406  dbSNP: rs35669708

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224279	SCV000281189	likely benign	not provided	2016-01-07	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
GeneDx	RCV000236228	SCV000292641	benign	not specified	2017-09-18	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000545651	SCV000626963	benign	Hereditary insensitivity to pain with anhidrosis	2024-01-31	criteria provided, single submitter	clinical testing
Counsyl	RCV000545651	SCV000790135	likely benign	Hereditary insensitivity to pain with anhidrosis	2017-03-06	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000224279	SCV000842954	benign	not provided	2018-02-02	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000545651	SCV001256268	uncertain significance	Hereditary insensitivity to pain with anhidrosis	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000545651	SCV001472919	benign	Hereditary insensitivity to pain with anhidrosis	2023-11-29	criteria provided, single submitter	clinical testing
Pars Genome Lab	RCV000545651	SCV001652868	likely benign	Hereditary insensitivity to pain with anhidrosis	2021-05-18	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000236228	SCV002050915	likely benign	not specified	2021-12-10	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000224279	SCV002496947	benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	NTRK1: PM5, BP4, BS1, BS2
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000545651	SCV004016477	benign	Hereditary insensitivity to pain with anhidrosis	2023-07-07	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003929930	SCV004742781	likely benign	NTRK1-related disorder	2019-06-11	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).