ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.5558C>G (p.Thr1853Arg)

dbSNP: rs2069385223
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001071138 SCV001236426 uncertain significance Neurofibromatosis, type 1 2019-05-16 criteria provided, single submitter clinical testing This sequence change replaces threonine with arginine at codon 1832 of the NF1 protein (p.Thr1832Arg). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and arginine. 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Tolerated; PolyPhen-2: Probably Damaging; Align-GVGD: Class C0). 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.
PreventionGenetics, part of Exact Sciences RCV004726868 SCV005340276 uncertain significance NF1-related disorder 2024-07-12 no assertion criteria provided clinical testing The NF1 c.5558C>G variant is predicted to result in the amino acid substitution p.Thr1853Arg. This variant has been reported in a patient with classical neurofibromatosis (reported as c.5495C>G in Table 5, Paterra et al. 2022. PubMed ID: 36612057). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Although we suspect that this variant may be pathogenic, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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