ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.2251+3A>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 RCV002443537 SCV002735172 likely pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2022-11-09 criteria provided, single submitter clinical testing The c.2251+3A>C intronic variant results from an A to C substitution 3 nucleotides after coding exon 18 in the NF1 gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration may 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). Based on the majority of available evidence to date, this variant is likely to be pathogenic.

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