ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.5812+2T>G

dbSNP: rs1555533887
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001384954 SCV001584657 pathogenic Neurofibromatosis, type 1 2020-01-31 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). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 23913538). This variant has been observed in individual(s) with clinical features of neurofibromatosis type I (PMID: 23913538, 7981679). This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 38 of the NF1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.
Baylor Genetics RCV003469710 SCV004198989 pathogenic Juvenile myelomonocytic leukemia 2022-03-30 criteria provided, single submitter clinical testing

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