ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.2001+5G>T

dbSNP: rs2144028091
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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 RCV002031814 SCV002310845 uncertain significance Neurofibromatosis, type 1 2022-07-29 criteria provided, single submitter clinical testing This sequence change falls in intron 17 of the NF1 gene. It does not directly change the encoded amino acid sequence of the NF1 protein. It affects a nucleotide within the consensus splice site. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with NF1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1524568). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant is associated with altered splicing resulting in unknown protein product impact (Invitae). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Baylor Genetics RCV003471288 SCV004190695 uncertain significance Juvenile myelomonocytic leukemia 2023-06-07 criteria provided, single submitter clinical testing

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