ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.1527+1159C>T (rs878853868)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000229504 SCV000284384 uncertain significance Neurofibromatosis, type 1 2018-05-18 criteria provided, single submitter clinical testing This sequence change falls in intron 13 of the NF1 gene. It does not directly change the encoded amino acid sequence of the NF1 protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with neurofibromatosis type 1 (PMID: 17311297, Invitae). ClinVar contains an entry for this variant (Variation ID: 237518). Experimental studies have shown that this intronic change creates a new splice site that results in the inclusion of cryptic exons (PMID: 18546366, 17311297). 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.

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