ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.996G>A (p.Lys332=) (rs863224343)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000561964 SCV000669706 likely benign Hereditary cancer-predisposing syndrome 2016-07-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,In silico models in agreement (benign)
GeneDx RCV000433463 SCV000515457 likely benign not specified 2016-10-10 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 RCV000590087 SCV000696298 uncertain significance not provided 2016-11-10 criteria provided, single submitter clinical testing Variant summary: The MSH2 c.996G>A (p.Lys332Lys) variant causes a synonymous change involving a non-conserved nucleotide with 3/5 splice prediction tools predict no significant impact on normal splicing, although these predictions have yet to be functionally assessed. The variant of interest was not observed in controls (ExAC, 1000 Gs, or ESP), nor has it been, to our knowledge, reported in affected individuals via publications. Although, a clinical diagnostic laboratory does cite the variant with a classification of "likely benign." Therefore, until additional information becomes available (ie, clinical and functional studies), the variant of interest has been classified as a "Variant of Uncertain Significance (VUS) - possibly benign."
Invitae RCV000200501 SCV000253163 likely benign Hereditary nonpolyposis colon cancer 2017-06-28 criteria provided, single submitter clinical testing

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