ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.4332+1dup

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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 RCV003172327 SCV003861612 likely pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2022-12-21 criteria provided, single submitter clinical testing The c.4269+1dupG intronic variant results from a duplication of one nucleotide after coding exon 31 of the NF1 gene. In silico splice site analysis predicts that this alteration will weaken the native splice donor site and will result in the creation or strengthening of a novel splice donor site; however, direct evidence is insufficient at this time (Ambry internal data). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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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