ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3245_3247del (p.Gly1082_Leu1083delinsVal)

dbSNP: rs1597718783
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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 RCV000801306 SCV000941077 uncertain significance Neurofibromatosis, type 1 2018-08-26 criteria provided, single submitter clinical testing Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acids is currently unknown. This variant, c.3245_3247delGTC, results in the deletion of 2 amino acids and the insertion of 1 amino acid in the NF1 protein (p.Gly1082_Leu1083delinsVal), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with NF1-related disease. 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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