ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.6642-1G>A (rs1060500356)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000524897 SCV000628727 likely pathogenic Neurofibromatosis, type 1 2017-05-11 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 43 of the NF1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with a NF1-related disease. Two different variants affecting this same nucleotide (c.6642-1G>T, c.6642-1G>C) have been observed in individuals diagnosed with or suspected of having neurofibromatosis type 1 (NF1) (PMID: 10712197, Invitae). In summary, donor and acceptor splice site variants are typically loss-of-function (PMID: 16199547), and loss-of-function 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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