Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV000582647 | SCV000689910 | likely benign | Hereditary cancer-predisposing syndrome | 2017-04-13 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001192576 | SCV001360804 | uncertain significance | not specified | 2019-05-28 | criteria provided, single submitter | clinical testing | Variant summary: MLH1 c.677+26dupA is located at a position not widely known to affect splicing. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 8e-06 in 250000 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.677+26dupA in individuals affected with Hereditary Non-Polyposis Colon Cancer and no experimental evidence demonstrating its impact on protein function have been reported. A ClinVar submitter (evaluation after 2014) cites the variant as likely benign. Based on the evidence outlined above, the variant was classified as VUS-possibly benign. |
Invitae | RCV002061826 | SCV002402999 | benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-28 | criteria provided, single submitter | clinical testing |