ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.4388del (p.Pro1463fs)

dbSNP: rs2151463107
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pediatrics, Memorial Sloan Kettering Cancer Center RCV001523831 SCV001478138 pathogenic Neurofibromatosis, type 1 2020-12-15 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001523831 SCV004374997 pathogenic Neurofibromatosis, type 1 2023-10-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro1442Leufs*6) 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 premature translational stop signal has been observed in individual(s) with pediatric cancer (PMID: 34308366). ClinVar contains an entry for this variant (Variation ID: 995900). For these reasons, this variant has been classified as Pathogenic.

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