ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1865C>A (p.Pro622Gln) (rs28929483)

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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 RCV000780453 SCV000917709 uncertain significance not specified 2017-11-28 criteria provided, single submitter clinical testing Variant summary: The MSH2 c.1865C>A (p.Pro622Gln) variant located in the DNA mismatch repair protein MutS, core domain (InterPro) involves the alteration of a conserved nucleotide and 4/4 in silico tools predict a damaging outcome for this variant (SNPsandGO not captured due to low reliability index). However, these predictions have yet to be functionally assessed. This variant is absent in 246248 control chromosomes (gnomAD). In addition, one reputable database classified this variant as uncertain significance. 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. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS).
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000490605 SCV000579297 uncertain significance Lynch syndrome I 2016-04-20 reviewed by expert panel research insufficient evidence

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