ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.6756del (p.Phe2252fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002367082 SCV002665364 pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2023-01-23 criteria provided, single submitter clinical testing The c.6693delT pathogenic mutation, located in coding exon 44 of the NF1 gene, results from a deletion of one nucleotide at nucleotide position 6693, causing a translational frameshift with a predicted alternate stop codon (p.F2231Lfs*13). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Labcorp Genetics (formerly Invitae), Labcorp RCV003495288 SCV004315586 pathogenic Neurofibromatosis, type 1 2023-10-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe2231Leufs*13) in the NF1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with NF1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1754920). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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