ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.3113+2T>G (rs876658997)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000213563 SCV000274932 pathogenic Hereditary cancer-predisposing syndrome 2015-04-03 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other acmg-defined mutation (i.e. initiation codon or gross deletion),Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity
Center for Human Genetics, Inc RCV000230814 SCV000781971 likely pathogenic Neurofibromatosis, type 1 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV000230814 SCV000284427 likely pathogenic Neurofibromatosis, type 1 2016-01-23 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 23 of NF1. It is expected to disrupt mRNA splicing and likely results in an absent or disrupted protein product. This variant has not been reported in the literature in an individual with a NF1-related disease. In summary, donor and 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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