ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.2065G>A (p.Val689Met)

gnomAD frequency: 0.00001  dbSNP: rs771784652
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000472940 SCV000542181 likely benign Neurofibromatosis, type 1 2024-11-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002318512 SCV000666752 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2023-05-11 criteria provided, single submitter clinical testing The p.V689M variant (also known as c.2065G>A), located in coding exon 18 of the NF1 gene, results from a G to A substitution at nucleotide position 2065. The valine at codon 689 is replaced by methionine, 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.
Genome-Nilou Lab RCV000472940 SCV002561992 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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