ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.2689C>T (p.Arg897Trp)

gnomAD frequency: 0.00001  dbSNP: rs775949348
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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 RCV000461127 SCV000542105 likely benign Neurofibromatosis, type 1 2025-01-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002318508 SCV000666678 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2022-03-22 criteria provided, single submitter clinical testing The c.2689C>T (p.R897W) alteration is located in exon 21 (coding exon 21) of the NF1 gene. This alteration results from a C to T substitution at nucleotide position 2689, causing the arginine (R) at amino acid position 897 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV000461127 SCV002562086 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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