ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.2251+11A>G

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002746406 SCV003012092 uncertain significance Neurofibromatosis, type 1 2025-02-02 criteria provided, single submitter clinical testing This sequence change falls in intron 18 of the NF1 gene. It does not directly change the encoded amino acid sequence of the NF1 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with NF1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1975022). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV004559968 SCV005047611 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2022-11-10 criteria provided, single submitter clinical testing The c.2251+11A>G intronic alteration consists of a A to G substitution 1 nucleotides after coding exon 18 in the NF1 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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