ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.5914dup (p.Thr1972fs)

dbSNP: rs2069606043
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197901 SCV001368684 pathogenic Neurofibromatosis, type 1 2018-12-01 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM1,PM2,PP4.
Invitae RCV001197901 SCV001587958 pathogenic Neurofibromatosis, type 1 2023-12-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr1951Asnfs*5) 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 clinical features of neurofibromatosis type 1 (PMID: 25074460). ClinVar contains an entry for this variant (Variation ID: 931387). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV001197901 SCV002560160 pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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