ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.730+1G>T

dbSNP: rs1060500274
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659967 SCV000781879 likely pathogenic Neurofibromatosis, type 1 2016-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000659967 SCV001216285 pathogenic Neurofibromatosis, type 1 2020-10-15 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). Disruption of this splice site has been observed in several individuals affected with neurofibromatosis type 1 (PMID: 21354044, 22190595). ClinVar contains an entry for this variant (Variation ID: 547571). This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 7 of the NF1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.
Genome-Nilou Lab RCV000659967 SCV002561597 likely pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Swedish National ChiCaP Initative, Genomic Medicine Sweden RCV004797853 SCV005419202 pathogenic NF1-related disorder 2024-05-01 criteria provided, single submitter clinical testing

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