ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.6211C>T (p.Gln2071Ter)

dbSNP: rs1135402884
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000497124 SCV002230870 pathogenic Neurofibromatosis, type 1 2021-12-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 431668). This premature translational stop signal has been observed in individual(s) with clinical features of neurofibromatosis type 1 (PMID: 28961165). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln2050*) 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).
Medical Genetics, University of Parma RCV000497124 SCV000588813 pathogenic Neurofibromatosis, type 1 2017-02-02 no assertion criteria provided clinical testing
Laboratory of Urology, Hospital Clinic de Barcelona RCV003332186 SCV004040517 pathogenic Malignant tumor of urinary bladder no assertion criteria provided research

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