Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000212617 | SCV000170347 | benign | not specified | 2013-12-27 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Ambry Genetics | RCV000126821 | SCV000212951 | likely benign | Hereditary cancer-predisposing syndrome | 2014-09-16 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000323210 | SCV000430933 | uncertain significance | Lynch syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000409899 | SCV000488353 | likely benign | Lynch syndrome I | 2016-03-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001083829 | SCV000559194 | benign | Hereditary nonpolyposis colorectal neoplasms | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Department of Pathology and Laboratory Medicine, |
RCV000212617 | SCV000592543 | benign | not specified | 2015-05-20 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000212617 | SCV000601460 | benign | not specified | 2017-04-18 | criteria provided, single submitter | clinical testing | |
Color | RCV000126821 | SCV000685022 | benign | Hereditary cancer-predisposing syndrome | 2015-06-11 | criteria provided, single submitter | clinical testing | |
Integrated Genetics/Laboratory Corporation of America | RCV000590738 | SCV000696238 | benign | not provided | 2016-08-15 | criteria provided, single submitter | clinical testing | Variant summary: The MSH2 c.2205C>T (p.Ile735Ile) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 185/121382 control chromosomes (2 homozygotes), predominantly observed in the South Asian subpopulation at a frequency of 0.0109038 (180/16508). This frequency is about 19 times the estimated maximal expected allele frequency of a pathogenic MSH2 variant (0.0005683), suggesting this is likely a benign polymorphism found primarily in the populations of South Asian origin. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign/likely benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. One internal sample also carried a disease variant in BRCA1 c.3869_3870delAA, further suppporting the benign classification. Taken together, this variant is classified as benign. |
Prevention |
RCV000212617 | SCV000806027 | benign | not specified | 2017-07-06 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Genetic Testing Laboratories, |
RCV000212617 | SCV000691910 | likely benign | not specified | no assertion criteria provided | clinical testing | ||
True Health Diagnostics | RCV000126821 | SCV000805269 | likely benign | Hereditary cancer-predisposing syndrome | 2018-05-09 | no assertion criteria provided | clinical testing |