ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.8450C>T (p.Ser2817Phe)

dbSNP: rs1048863798
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001045305 SCV001209146 uncertain significance Neurofibromatosis, type 1 2023-07-06 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with NF1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 2796 of the NF1 protein (p.Ser2796Phe). ClinVar contains an entry for this variant (Variation ID: 842822). 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. 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.
Ambry Genetics RCV003160337 SCV003861583 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2022-11-18 criteria provided, single submitter clinical testing The p.S2796F variant (also known as c.8387C>T), located in coding exon 57 of the NF1 gene, results from a C to T substitution at nucleotide position 8387. The serine at codon 2796 is replaced by phenylalanine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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