ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.655-1G>C

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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 RCV004994523 SCV005454594 likely pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2024-11-13 criteria provided, single submitter clinical testing The c.655-1G>C intronic variant results from a G to C substitution one nucleotide upstream from coding exon 7 of the NF1 gene. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will weaken the native splice acceptor site. 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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