ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.60+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 RCV002358009 SCV002656172 pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2022-05-12 criteria provided, single submitter clinical testing The c.60+1delG intronic pathogenic mutation, located in intron 1 of the NF1 gene, results from a deletion of one nucleotide within intron 1 of the NF1 gene. This alteration has been observed in individuals with a personal and/or family history that is consistent with NF1-related disease (Ambry internal data, Xu W et al. Int J Mol Med, 2014 Jul;34:53-60). 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 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). In addition to the clinical data presented in the literature, 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 a disease-causing mutation.

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