ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.2002-4_2010del (rs878853871)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000231778 SCV000284399 likely pathogenic Neurofibromatosis, type 1 2016-01-01 criteria provided, single submitter clinical testing This sequence change deletes 13 nucleotides at the junction between intron 17 and exon 18, including the acceptor splice site. It is expected to disrupt mRNA splicing and predicted to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with an NF1-related disease. In summary, acceptor splice site variants are typically truncating (PMID: 16199547), and truncating variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). However, without additional functional and/or genetic data, this variant has been classified as Likely Pathogenic.

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