ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.6819+1del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004560771 SCV005048681 likely pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2023-03-28 criteria provided, single submitter clinical testing The c.6756+1delG intronic variant, located in intron 44 of the NF1 gene, results from a deletion of one nucleotide within intron 44 of the NF1 gene. This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will weaken the native splice donor site. RNA studies have demonstrated that this alteration results in abnormal splicing in the set of samples tested (Ambry internal data). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). Based on the majority of available evidence to date, this variant is likely to be pathogenic.

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