Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000197864 | SCV000255271 | uncertain significance | Lynch syndrome | 2015-05-12 | criteria provided, single submitter | clinical testing | This sequence change deletes 9 nucleotides from exon 1 of the MSH2 mRNA (c.115_123del). This leads to the deletion of 3 amino acid residues in the MSH2 protein (p.Arg39_Asp41del) but otherwise preserves the integrity of the reading frame. This variant has not been published in the literature and is not present in population databases. The effect of a small in-frame deletion in this region of the MSH2 gene is unknown and experimental studies have not been done to assess the impact of this particular deletion on splicing or protein function. In summary, this is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. |
| Ambry Genetics | RCV004017483 | SCV004849077 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-01-10 | criteria provided, single submitter | clinical testing | The c.115_123delCGGGGCGAC (p.R39_D41DEL) alteration is located in exon 1 (coding exon 1) of the MSH2 gene. This alteration consists of an in-frame deletion of 9 nucleotides between nucleotide positions c.115 and c.123, resulting in the deletion of <NA> residues. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |