ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.5813-3C>T

dbSNP: rs2151550224
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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 RCV001931297 SCV002197531 uncertain significance Neurofibromatosis, type 1 2021-09-15 criteria provided, single submitter clinical testing 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. 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. This variant has not been reported in the literature in individuals affected with NF1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 38 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 of the intron.
Ambry Genetics RCV003167328 SCV003861621 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2022-12-21 criteria provided, single submitter clinical testing The c.5750-3C>T intronic variant results from a C to T substitution 3 nucleotides before coding exon 39 in the NF1 gene. This nucleotide position is well 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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