ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3890T>C (p.Leu1297Pro)

dbSNP: rs1597722927
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002319290 SCV001182977 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2022-05-23 criteria provided, single submitter clinical testing The p.L1297P variant (also known as c.3890T>C), located in coding exon 29 of the NF1 gene, results from a T to C substitution at nucleotide position 3890. The leucine at codon 1297 is replaced by proline, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV001367688 SCV001564047 uncertain significance Neurofibromatosis, type 1 2021-01-22 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals with NF1-related conditions. ClinVar contains an entry for this variant (Variation ID: 824344). This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with proline at codon 1297 of the NF1 protein (p.Leu1297Pro). The leucine residue is moderately conserved and there is a moderate physicochemical difference between leucine and proline.
Genome-Nilou Lab RCV001367688 SCV002560339 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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