ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7791del (p.Val2598fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV004764262 SCV005368772 pathogenic Neurofibromatosis, type 1 2024-09-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val2598fs) in the NF1 gene. It is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with NF1-related conditions. This variant is not present in the population databases (ExAC). This variant is not reported in ClinVar. However, another variant (c.7793del) which leads to the same protein change (p.2598fs) is classified in ClinVar as pathogenic. Loss-of-function variants in the NF1 gene are known to be pathogenic (PMID: 10712197, 23913538). Therefore, this variant has been classified as pathogenic.

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