ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.2408A>C (p.Gln803Pro)

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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 RCV002450300 SCV002732700 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2020-12-16 criteria provided, single submitter clinical testing The p.Q803P variant (also known as c.2408A>C), located in coding exon 20 of the NF1 gene, results from an A to C substitution at nucleotide position 2408. The glutamine at codon 803 is replaced by proline, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003775230 SCV004683592 uncertain significance Neurofibromatosis, type 1 2023-06-15 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 803 of the NF1 protein (p.Gln803Pro). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with NF1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1790823). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
GeneDx RCV004765518 SCV005378036 uncertain significance not provided 2023-11-07 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 25486365)

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