ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.7318_7320CTT[2] (p.Leu2442del) (rs786203184)

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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 RCV000166388 SCV000217180 uncertain significance Hereditary cancer-predisposing syndrome 2014-10-15 criteria provided, single submitter clinical testing
Invitae RCV000632330 SCV000753507 uncertain significance Neurofibromatosis, type 1 2018-09-27 criteria provided, single submitter clinical testing This variant, c.7324_7326delCTT, results in the deletion of 1 amino acid of the NF1 protein (p.Leu2442del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs760990926, ExAC 0.02%). This variant has been reported in an individual affected with neurofibromatosis-Noonan syndrome (PMID: 23047742). This variant is also known as c.7324delCTT in the literature. ClinVar contains an entry for this variant (Variation ID: 186743). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid(s) is currently unknown. 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.

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