ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.3871-2A>G (rs1131691077)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000492202 SCV000581257 likely pathogenic Hereditary cancer-predisposing syndrome 2014-10-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity
Invitae RCV000560336 SCV000628552 pathogenic Neurofibromatosis, type 1 2018-12-11 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 28 of the NF1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals affected with neurofibromatosis type 1 (PMID: 21520333, 23913538, Invitae). ClinVar contains an entry for this variant (Variation ID: 428953). 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). For these reasons, this variant has been classified as Pathogenic.

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