ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3436G>T (p.Val1146Phe)

dbSNP: rs201047812
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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 RCV000703161 SCV000832048 pathogenic Neurofibromatosis, type 1 2022-08-15 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 sequence change replaces valine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 1146 of the NF1 protein (p.Val1146Phe). ClinVar contains an entry for this variant (Variation ID: 579791). This missense change has been observed in individual(s) with clinical features of neurofibromatosis-Noonan syndrome (Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency).

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