Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000075802 | SCV000106817 | likely pathogenic | Lynch syndrome | 2019-06-21 | reviewed by expert panel | curation | Interrupts canonical donor splice site |
Invitae | RCV000533036 | SCV000625183 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2017-06-14 | criteria provided, single submitter | clinical testing | This sequence change affects a donor splice site in intron 8 of the MLH1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. Loss-of-function variants in MLH1 are known to be pathogenic. This particular variant has been reported in the literature in a family affected with Lynch syndrome (PMID: 12070261). A different variant affecting this nucleotide (c.677+1G>T) has been determined to be pathogenic (PMID: 27601186, 12624141, 15342696, 17312306). This suggests that this nucleotide is important for normal RNA splicing, and that other variants at this position may also be pathogenic. For these reasons, this variant has been classified as Pathogenic. |
Counsyl | RCV000663323 | SCV000786595 | likely pathogenic | Lynch syndrome II | 2018-06-04 | criteria provided, single submitter | clinical testing | |
Color | RCV001183308 | SCV001349012 | likely pathogenic | Hereditary cancer-predisposing syndrome | 2018-12-18 | criteria provided, single submitter | clinical testing |