ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.2128T>G (p.Phe710Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002417729 SCV002729975 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2020-03-20 criteria provided, single submitter clinical testing The p.F710V variant (also known as c.2128T>G), located in coding exon 18 of the NF1 gene, results from a T to G substitution at nucleotide position 2128. The phenylalanine at codon 710 is replaced by valine, an amino acid with highly 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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