ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3076A>T (p.Arg1026Ter)

dbSNP: rs1555614529
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000508124 SCV000604476 pathogenic not specified 2016-09-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000820663 SCV000961383 pathogenic Neurofibromatosis, type 1 2023-03-13 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Arg1026*) 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 NF1-related conditions (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 439974).
Genome-Nilou Lab RCV000820663 SCV002559922 pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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