ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.60+4A>G

dbSNP: rs1911560774
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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 RCV001216495 SCV001388295 uncertain significance Neurofibromatosis, type 1 2024-01-06 criteria provided, single submitter clinical testing This sequence change falls in intron 1 of the NF1 gene. It does not directly change the encoded amino acid sequence of the NF1 protein. It affects a nucleotide within the consensus splice site. 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: 945776). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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 RCV002356922 SCV002657573 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2022-06-17 criteria provided, single submitter clinical testing The c.60+4A>G intronic variant results from an A to G substitution 4 nucleotides after coding exon 1 in the NF1 gene. This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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