Submissions for variant NM_006180.6(NTRK2):c.211A>G (p.Ile71Val)

dbSNP: rs1169880026

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001913696	SCV002183262	uncertain significance	not provided	2024-11-05	criteria provided, single submitter	clinical testing	This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 71 of the NTRK2 protein (p.Ile71Val). This variant is present in population databases (no rsID available, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with NTRK2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1409460). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Revvity Omics, Revvity	RCV001913696	SCV003814198	likely benign	not provided	2023-05-31	criteria provided, single submitter	clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	RCV003992579	SCV004810290	uncertain significance	Obesity, hyperphagia, and developmental delay	2024-04-04	criteria provided, single submitter	clinical testing