ClinVar Miner

Submissions for variant NM_025074.7(FRAS1):c.8098+2T>A

dbSNP: rs786205570
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 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.

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