ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.1871T>C (p.Phe624Ser)

dbSNP: rs1597710397
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000819884 SCV000960569 uncertain significance Neurofibromatosis, type 1 2018-12-10 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with NF1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces phenylalanine with serine at codon 624 of the NF1 protein (p.Phe624Ser). The phenylalanine residue is weakly conserved and there is a large physicochemical difference between phenylalanine and serine.
Ambry Genetics RCV002406882 SCV002721078 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2020-06-22 criteria provided, single submitter clinical testing The p.F624S variant (also known as c.1871T>C), located in coding exon 17 of the NF1 gene, results from a T to C substitution at nucleotide position 1871. The phenylalanine at codon 624 is replaced by serine, an amino acid with highly dissimilar properties. This amino acid position is well conserved in available vertebrate species; however, serine is the reference amino acid in other 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.
Baylor Genetics RCV004569749 SCV005052180 uncertain significance Juvenile myelomonocytic leukemia 2024-03-27 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.