ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.776G>A (p.Ser259Asn)

dbSNP: rs2066156591
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001212221 SCV001383798 uncertain significance Neurofibromatosis, type 1 2023-11-09 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 259 of the NF1 protein (p.Ser259Asn). 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: 942268). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on NF1 protein function. 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.
Sema4, Sema4 RCV002258159 SCV002528122 uncertain significance Hereditary cancer-predisposing syndrome 2021-10-07 criteria provided, single submitter curation
Genome-Nilou Lab RCV001212221 SCV002561513 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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