ClinVar Miner

Submissions for variant NC_000017.11:g.(?_31200416)_(31206377_?)del

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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 RCV000632632 SCV000753817 pathogenic Neurofibromatosis, type 1 2019-03-01 criteria provided, single submitter clinical testing This variant is an in-frame deletion of the genomic region encompassing exons 9-12 of the NF1 gene. It preserves the integrity of the reading frame. This variant has been observed in individuals affected with neurofibromatosis type 1 (Invitae). The p.Leu380 amino acid residue in exon 10 of the NF1 gene has been determined to be clinically significant (PMID: 27999334, Invitae). This suggests that variants that disrupt this residue are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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