ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3844A>C (p.Ser1282Arg)

dbSNP: rs2151438016
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001936099 SCV002202860 pathogenic Neurofibromatosis, type 1 2021-07-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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 missense change has been observed in individual(s) with clinical features of NF1-Noonan syndrome and/or neurofibromatosis type 1 (PMID: 26962827; Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with arginine at codon 1282 of the NF1 protein (p.Ser1282Arg). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and arginine.

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