ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.3456A>G (p.Val1152=) (rs750998416)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000417896 SCV000520396 likely benign not specified 2017-06-08 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.
Invitae RCV000468622 SCV000561445 likely benign Hereditary nonpolyposis colon cancer 2017-03-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000572401 SCV000662401 likely benign Hereditary cancer-predisposing syndrome 2016-02-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Integrated Genetics/Laboratory Corporation of America RCV000587235 SCV000695867 likely benign not provided 2017-08-09 criteria provided, single submitter clinical testing Variant summary: The MSH6 c.3456A>G (p.Val1152Val) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. Mutation taster predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant does not affect binding of any ESE sites. However, these predictions have yet to be confirmed by functional studies. This variant was found in 1/121342 control chromosomes at a frequency of 0.0000082, which does not exceed the estimated maximal expected allele frequency of a pathogenic MSH6 variant (0.0001421). This variant has been reported in one patient with ovarian cancer who also carries MSH6 c.3083C>A (p.Ser1028X) (Chui_2014). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign. Taken together, this variant is classified as likely benign.
Color RCV000572401 SCV000908421 likely benign Hereditary cancer-predisposing syndrome 2018-03-07 criteria provided, single submitter clinical testing

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