ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.5738_5740dup (p.Lys1913_Thr1914insLys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003599606 SCV004500389 uncertain significance Neurofibromatosis, type 1 2023-04-26 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with NF1-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.5675_5677dup, results in the insertion of 1 amino acid(s) of the NF1 protein (p.Lys1892dup), but otherwise preserves the integrity of the reading frame.

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