ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.2870A>T (p.Asn957Ile)

dbSNP: rs1135402834
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Genetics, University of Parma RCV000497111 SCV000588750 likely pathogenic Neurofibromatosis, type 1 2022-08-17 criteria provided, single submitter clinical testing
Invitae RCV000497111 SCV001508567 pathogenic Neurofibromatosis, type 1 2021-12-02 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. ClinVar contains an entry for this variant (Variation ID: 431611). This missense change has been observed in individual(s) with neurofibromatosis type 1 (PMID: 27322474; 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). This sequence change replaces asparagine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 957 of the NF1 protein (p.Asn957Ile).

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