ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.1237T>C (p.Ser413Pro)

dbSNP: rs1555611093
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659980 SCV000781896 pathogenic Neurofibromatosis, type 1 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV000659980 SCV003441764 pathogenic Neurofibromatosis, type 1 2023-08-30 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: 547584). This missense change has been observed in individual(s) with clinical features of neurofibromatosis type 1 (PMID: 16835897; external communication). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 413 of the NF1 protein (p.Ser413Pro).

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