ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7278_7279del (p.Cys2426_Asp2427delinsTer)

dbSNP: rs2070076932
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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 RCV001290796 SCV001478952 likely pathogenic Neurofibromatosis, type 1 2020-10-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001290796 SCV002230777 pathogenic Neurofibromatosis, type 1 2022-08-15 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 996392). This variant has not been reported in the literature in individuals affected with NF1-related conditions. This sequence change creates a premature translational stop signal (p.Cys2405*) 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).
Genome-Nilou Lab RCV001290796 SCV002560565 pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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