ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.484C>A (p.Gln162Lys)

dbSNP: rs1555607073
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000709411 SCV000839131 uncertain significance Neurofibromatosis, type 1 2018-07-02 criteria provided, single submitter clinical testing
Invitae RCV000709411 SCV001533240 uncertain significance Neurofibromatosis, type 1 2024-01-02 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with lysine, which is basic and polar, at codon 162 of the NF1 protein (p.Gln162Lys). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with NF1-related conditions. ClinVar contains an entry for this variant (Variation ID: 584926). 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 with a positive predictive value of 95%. 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.
Genome-Nilou Lab RCV000709411 SCV002561471 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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