ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.4384C>T (p.Arg1462Trp)

gnomAD frequency: 0.00001  dbSNP: rs876658127
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000474000 SCV000541978 likely benign Neurofibromatosis, type 1 2025-01-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002318983 SCV001184006 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2022-01-25 criteria provided, single submitter clinical testing The p.R1441W variant (also known as c.4321C>T), located in coding exon 32 of the NF1 gene, results from a C to T substitution at nucleotide position 4321. The arginine at codon 1441 is replaced by tryptophan, an amino acid with dissimilar 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 RCV000474000 SCV002560417 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
GeneDx RCV003128802 SCV003805935 uncertain significance not provided 2022-08-16 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 25486365, 22807134)

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