ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.6147+2T>C

dbSNP: rs1555534621
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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 RCV000660092 SCV000782071 likely pathogenic Neurofibromatosis, type 1 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV000660092 SCV000954012 pathogenic Neurofibromatosis, type 1 2019-01-31 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: 22222937, Invitae). ClinVar contains an entry for this variant (Variation ID: 547673). This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 40 of the NF1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.
Genome-Nilou Lab RCV000660092 SCV002560172 pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Athena Diagnostics RCV002473099 SCV002771579 likely pathogenic not provided 2021-08-26 criteria provided, single submitter clinical testing This variant is expected to severely impact normal RNA splicing, and consequently, protein structure and/or function. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). This variant has been identified in at least one individual tested at Athena Diagnostics with clinical features associated with this gene.

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