Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000794721 | SCV000934147 | pathogenic | Neurofibromatosis, type 1 | 2023-01-12 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. 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 may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 641476). This variant has been observed in individual(s) with neurofibromatosis type 1 (PMID: 25074460, 29483232; Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 11 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. |
Ce |
RCV003886437 | SCV004704335 | likely pathogenic | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | NF1: PM2, PS4:Moderate, PP3, PP4, PS1:Supporting |
Yale Center for Mendelian Genomics, |
RCV000845191 | SCV000987127 | likely pathogenic | Atypical coarctation of aorta | 2018-02-26 | no assertion criteria provided | literature only |