Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department Of Translational Genomics |
RCV000171378 | SCV000221575 | likely pathogenic | not provided | criteria provided, single submitter | research | ||
Ambry Genetics | RCV002517649 | SCV003617035 | pathogenic | Inborn genetic diseases | 2022-05-24 | criteria provided, single submitter | clinical testing | The c.8098+2T>A intronic variant results from a T to A substitution two nucleotides after coding exon 55 of the FRAS1 gene. Alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will weaken the native splice donor site and will result in the creation or strengthening of a novel splice donor site. Based on the available evidence, this alteration is classified as pathogenic. |