ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.4099T>C (p.Cys1367Arg)

dbSNP: rs2151451647
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001932528 SCV002133697 uncertain significance Neurofibromatosis, type 1 2021-07-06 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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. 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. This variant has not been reported in the literature in individuals affected with NF1-related conditions. This sequence change replaces cysteine with arginine at codon 1367 of the NF1 protein (p.Cys1367Arg). The cysteine residue is moderately conserved and there is a large physicochemical difference between cysteine and arginine.
Medical Genetics, University of Parma RCV001932528 SCV002567777 likely pathogenic Neurofibromatosis, type 1 2022-08-17 criteria provided, single submitter clinical testing

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