ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.-383_60+?dup443

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000240404 SCV000299152 uncertain significance Neurofibromatosis, type 1 2017-01-10 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exon one of the NF1 gene. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 1 of the NF1 gene. This variant has not been reported in the literature in individuals with a NF1-related disease. ClinVar contains an entry for this variant (Variation ID: 254085). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of this duplication is currently unknown. In summary, the genomic location of this duplication is unknown and the impact of this variant on NF1 protein function has not been established. Therefore, it has been classified as a Variant of Uncertain Significance.

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