Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000204137 | SCV000260444 | uncertain significance | Papillary renal cell carcinoma type 1 | 2015-09-03 | criteria provided, single submitter | clinical testing | This sequence change is a gross duplication of the genomic region encompassing exon 2 of the MET gene. This duplication extends beyond both edges of the assayed region, but the 5' and 3' boundaries of this event are not known and the precise location of this duplication cannot be determined by this assay. This duplication may be in tandem with the MET gene or it may be located elsewhere in the genome. To our knowledge, this particular duplication has not been reported previously, although a similar duplication encompassing exons 1 and 2 of the MET gene was observed in a patient with idiopathic autism and the unaffected mother (PMID: 23375656). The clinical significance of this observation remains uncertain. In summary, this is a duplication involving the first coding exon of the MET gene. However, the genomic location and orientation of the duplicated sequence is unknown. For these reasons, this change has been classified as a Variant of Uncertain Significance. |