ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.2082T>C (p.Phe694=) (rs748210094)

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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 RCV000164217 SCV000214838 likely benign Hereditary cancer-predisposing syndrome 2015-12-15 criteria provided, single submitter clinical testing
Color RCV000164217 SCV000690044 likely benign Hereditary cancer-predisposing syndrome 2017-08-10 criteria provided, single submitter clinical testing
GeneDx RCV000442659 SCV000513663 likely benign not specified 2017-08-25 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 RCV000588777 SCV000696234 uncertain significance not provided 2017-04-13 criteria provided, single submitter clinical testing Variant summary: The MSH2 c.2082T>C (p.Phe694Phe) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 2/121394 control chromosomes at a frequency of 0.0000165, which does not exceed the estimated maximal expected allele frequency of a pathogenic MSH2 variant (0.0005683). In addition, multiple clinical diagnostic laboratories classified this variant as likely benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications. 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 RCV000233525 SCV000284133 likely benign Hereditary nonpolyposis colon cancer 2017-12-21 criteria provided, single submitter clinical testing

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