Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000491854 | SCV000579588 | likely pathogenic | Hereditary cancer-predisposing syndrome | 2016-08-17 | criteria provided, single submitter | clinical testing | The c.5069-3_5069-2delCA intronic variant results from a deletion of two nucleotides, C and A, three nucleotides upstream from coding exon 39 of the TSC2 gene. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6498 samples (12996 alleles) with coverage at this position. These two nucleotide positions are well conserved in available vertebrate species. 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. As such, this alteration is classified as likely pathogenic. |