ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7366_7457+21del

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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 RCV004560809 SCV005048765 likely pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2023-09-08 criteria provided, single submitter clinical testing The c.7303_7394+21del113 variant results from a deletion of 113 nucleotides between positions c.7303 and c.7394+21 and involves the canonical splice donor site after coding exon 49 of the NF1 gene. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). In silico splice site analysis predicts that this alteration will result in the creation or strengthening of a novel splice donor site. RNA studies have demonstrated that this alteration results in abnormal splicing in the set of samples tested (Ambry internal data). Alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. As such, this alteration is classified as likely pathogenic.

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