ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.588A>C (p.Pro196=) (rs1553350915)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000780449 SCV000917702 uncertain significance not specified 2017-10-10 criteria provided, single submitter clinical testing Variant summary: The MSH2 c.588A>C (p.Pro196Pro) variant involves the alteration of a non-conserved nucleotide located in the DNA mismatch repair protein MutS, connector domain (IPR007860) (InterPro), 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. ESE finder predicts that this variant may abrogate the binding sites for splicing enhancers. However, these predictions have yet to be confirmed by functional studies. This variant is absent in 246162 control chromosomes in gnomAD. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as VUS-possibly benign.
Invitae RCV000537096 SCV000625440 likely benign Hereditary nonpolyposis colon cancer 2017-07-19 criteria provided, single submitter clinical testing

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