ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1560A>G (p.Gly520=) (rs63750820)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000126813 SCV000213544 likely benign Hereditary cancer-predisposing syndrome 2014-07-18 criteria provided, single submitter clinical testing
Color RCV000126813 SCV000537417 likely benign Hereditary cancer-predisposing syndrome 2015-07-15 criteria provided, single submitter clinical testing
Counsyl RCV000662509 SCV000785045 likely benign Lynch syndrome I 2017-03-21 criteria provided, single submitter clinical testing
GeneDx RCV000212603 SCV000170339 benign not specified 2014-01-24 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.
Illumina Clinical Services Laboratory,Illumina RCV000198011 SCV000430925 uncertain significance Lynch syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588468 SCV000696217 uncertain significance not provided 2016-09-22 criteria provided, single submitter clinical testing Variant summary: The MSH2 c.1560A>G (p.Gly520Gly) variant causes a synonymous change involving a non-conserved nucleotide with 4/5 splice prediction tools predicting no significant effect on splicing, 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 14/121298 (1/8665), predominantly in the European (Non-Finnish) cohort, 14/66718 (1/4766), which does not exceed the estimated maximal expected allele frequency for a pathogenic MSH2 variant of 1/1759. The variant of interest has been reported in affected individuals via publications, although with limited information (ie, lack of co-occurrence and cosegregation data) and multiple clinical diagnostic laboratories cite the variant as "likely benign/benign." Therefore, until additional information becomes available, the variant of interest has been classified as a "VUS-possibly benign."
Invitae RCV000524346 SCV000253150 benign Hereditary nonpolyposis colon cancer 2018-01-09 criteria provided, single submitter clinical testing

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