ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3086T>C (p.Leu1029Pro)

dbSNP: rs2067092609
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001207293 SCV001378638 uncertain significance Neurofibromatosis, type 1 2019-08-26 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with proline at codon 1029 of the NF1 protein (p.Leu1029Pro). The leucine residue is moderately conserved and there is a moderate physicochemical difference between leucine and proline.
Ambry Genetics RCV002322016 SCV002608896 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2020-09-30 criteria provided, single submitter clinical testing The p.L1029P variant (also known as c.3086T>C), located in coding exon 23 of the NF1 gene, results from a T to C substitution at nucleotide position 3086. The leucine at codon 1029 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.

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