ClinVar Miner

Submissions for variant NC_000017.10:g.(?_29676118)_(29687741_?)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 RCV003109278 SCV003791986 pathogenic Neurofibromatosis, type 1 2022-05-24 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with NF1-related conditions. For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the NF1 protein in which other variant(s) (p.Leu2395Pro) have been determined to be pathogenic (PMID: 31370276; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant is a gross deletion of the genomic region encompassing exon(s) 48-56 of the NF1 gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame.

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