ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.4431-1G>T

dbSNP: rs1597746891
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000989803 SCV001140368 pathogenic Neurofibromatosis, type 1 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000989803 SCV001587498 pathogenic Neurofibromatosis, type 1 2020-03-19 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). Experimental studies have shown that disruption of this splice site disrupts mRNA splicing (PMID: 18546366). This variant has been observed in individual(s) with neurofibromatosis type 1 (PMID: 10712197). ClinVar contains an entry for this variant (Variation ID: 803359). This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 32 of the NF1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.
Genome-Nilou Lab RCV000989803 SCV002560053 pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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