ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.4436del (p.Phe1479fs)

dbSNP: rs1555618803
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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 RCV001048291 SCV001212286 pathogenic Neurofibromatosis, type 1 2024-10-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe1458Serfs*4) 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: 845258). For these reasons, this variant has been classified as Pathogenic.
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001048291 SCV001368200 pathogenic Neurofibromatosis, type 1 2019-06-21 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2,PP4.
Genome-Nilou Lab RCV001048291 SCV002560056 pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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