ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.8230C>T (p.Pro2744Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002421451 SCV002681791 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2020-03-02 criteria provided, single submitter clinical testing The p.P2723S variant (also known as c.8167C>T), located in coding exon 56 of the NF1 gene, results from a C to T substitution at nucleotide position 8167. The proline at codon 2723 is replaced by serine, 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 tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005008564 SCV005639988 uncertain significance Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2024-04-29 criteria provided, single submitter clinical testing

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