Submissions for variant NM_002529.4(NTRK1):c.482G>A (p.Arg161His)

gnomAD frequency: 0.00031  dbSNP: rs150271893

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000431011	SCV000513995	uncertain significance	not provided	2023-05-26	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant does not alter protein structure/function; Reported in patients with neuroblastoma (Lipska et al., 2009); This variant is associated with the following publications: (PMID: 20003389)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000547738	SCV000626972	likely benign	Hereditary insensitivity to pain with anhidrosis	2024-01-30	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000547738	SCV001252344	uncertain significance	Hereditary insensitivity to pain with anhidrosis	2017-04-28	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.
Mayo Clinic Laboratories, Mayo Clinic	RCV000431011	SCV001715578	uncertain significance	not provided	2020-05-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000431011	SCV004042452	uncertain significance	not provided	2023-09-01	criteria provided, single submitter	clinical testing
Mendelics	RCV003492037	SCV004232600	likely benign	Hereditary cancer	2024-01-23	criteria provided, single submitter	clinical testing