ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.787A>G (p.Lys263Glu)

dbSNP: rs1597659883
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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 RCV000808117 SCV000948209 likely pathogenic Neurofibromatosis, type 1 2022-03-17 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 652545). This missense change has been observed in individuals with clinical features of neurofibromatosis, type 1 (PMID: 23913538, 26635368; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 263 of the NF1 protein (p.Lys263Glu). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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