ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.5068A>C (p.Thr1690Pro)

dbSNP: rs2069332520
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001314994 SCV001505548 uncertain significance Neurofibromatosis, type 1 2020-09-26 criteria provided, single submitter clinical testing This sequence change replaces threonine with proline at codon 1669 of the NF1 protein (p.Thr1669Pro). The threonine residue is moderately conserved and there is a small physicochemical difference between threonine and proline. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with NF1-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt NF1 protein function. 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.
GeneDx RCV001760381 SCV002008359 uncertain significance not provided 2019-04-19 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV001314994 SCV002560499 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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