ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1387-4G>C (rs376796243)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162829 SCV000213315 likely benign Hereditary cancer-predisposing syndrome 2019-11-03 criteria provided, single submitter clinical testing In silico models in agreement (benign);RNA Studies;Other data supporting benign classification
Invitae RCV001086424 SCV000559190 likely benign Hereditary nonpolyposis colorectal neoplasms 2019-12-31 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000590179 SCV000601432 likely benign not provided 2018-09-05 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590179 SCV000696212 uncertain significance not provided 2016-10-28 criteria provided, single submitter clinical testing Variant summary: The MSH2 c.1387-4G>C variant involves the alteration of a non-conserved intronic nucleotide with 4/5 splice prediction tools predict no significant impact on normal splicing and ESE finder predicts alterations to ESE binding, although these predictions have yet to be functionally assessed. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 5/120968 (1/24195), predominantly in the African cohort, 5/10274 (1/2054), which does not exceed the estimated maximal expected allele frequency for a pathogenic MSH2 variant of 1/1759. The variant of interest, to our knowledge, has not been reported in affected individuals via publications, although a clinical diagnostic laboratory has cited the variant as "uncertain significance." Therefore, until additional information becomes available, the variant of interest has been classified as a "Variant of Uncertain Significance (VUS)."
Color RCV000162829 SCV000903781 likely benign Hereditary cancer-predisposing syndrome 2015-10-16 criteria provided, single submitter clinical testing

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