ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.303G>A (p.Glu101=) (rs1057521533)

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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 RCV000574949 SCV000662473 likely benign Hereditary cancer-predisposing syndrome 2016-05-02 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Color RCV000574949 SCV000909048 likely benign Hereditary cancer-predisposing syndrome 2018-04-30 criteria provided, single submitter clinical testing
GeneDx RCV000424717 SCV000523451 likely benign not specified 2017-08-11 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.
Integrated Genetics/Laboratory Corporation of America RCV000586792 SCV000695838 uncertain significance not provided 2017-03-16 criteria provided, single submitter clinical testing Variant summary: The MSH6 c.303G>A (p.Glu101Glu) variant located in the PWWP domain (via InterPro and UMD) involves the alteration of a non-conserved nucleotide causing a synonymous change, which 4/5 splice prediction tools predict no significant impact on normal splicing and ESE finder predicts that this variant does not significantly affect ESE binding. However, these predictions have yet to be confirmed by functional studies. This variant is absent from the large control database ExAC (0/121406 control chromosomes). A literature review showed the variant was detected at least once during MSH6 Sanger sequencing in 815 individuals suspected of having HNPCC and was classified by the authors as a polymorphism (Okkels_AIMM_2012). In addition, a clinical diagnostic laboratory (GeneDx) and a reputable database (UMD) have classified this variant as likely benign. Taken together, the variant of interest has been classified as a "Variant of Uncertain Significance - Possibly Benign."
Invitae RCV000469580 SCV000561448 likely benign Hereditary nonpolyposis colon cancer 2017-12-27 criteria provided, single submitter clinical testing

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