ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.843A>T (p.Ser281=) (rs150197753)

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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 RCV000573521 SCV000662238 likely benign Hereditary cancer-predisposing syndrome 2015-04-16 criteria provided, single submitter clinical testing
Color RCV000573521 SCV000685135 likely benign Hereditary cancer-predisposing syndrome 2015-06-02 criteria provided, single submitter clinical testing
GeneDx RCV000422592 SCV000513655 likely benign not specified 2017-07-21 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 RCV000422592 SCV000919700 uncertain significance not specified 2017-10-31 criteria provided, single submitter clinical testing Variant summary: The MSH2 c.843A>T (p.Ser281Ser) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool (MutationTaster) predicts a damaging outcome for this variant, however 4/5 splice prediction tools in Alamut predict no significant impact on normal splicing. ESE finder predicts that this variant may affect the binding site of the splicing factors SF2/ASF, however, these predictions are not confirmed by published experimental studies. This variant was found in 8/275716 control chromosomes at a frequency of 0.000029, which does not exceed the estimated maximal expected allele frequency of a pathogenic MSH2 variant (0.0005683). The variant of interest has not, to our knowledge, been reported in affected individuals via publications nor evaluated for functional impact by in vivo/vitro studies. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign. Taken together, this variant is classified as VUS-possibly benign.
Invitae RCV000232025 SCV000284190 likely benign Hereditary nonpolyposis colon cancer 2017-12-06 criteria provided, single submitter clinical testing

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