ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3186del (p.Lys1062fs)

dbSNP: rs1597717672
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001290835 SCV001479027 pathogenic Neurofibromatosis, type 1 2020-10-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001290835 SCV002179648 pathogenic Neurofibromatosis, type 1 2024-04-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys1062Asnfs*15) 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 neurofibromatosis, type 1 (PMID: 21354044). ClinVar contains an entry for this variant (Variation ID: 996427). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV001290835 SCV002559935 pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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