ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1224T>C (p.Thr408=) (rs1554298007)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000568984 SCV000670838 likely benign Hereditary cancer-predisposing syndrome 2017-02-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Integrated Genetics/Laboratory Corporation of America RCV000589305 SCV000697285 uncertain significance not provided 2016-10-28 criteria provided, single submitter clinical testing Variant summary: The c.1224T>C (p.Thr408=) in PMS2 gene is a synonymous change that involves a non-conserved nucleotide. 4/5 programs in Alamut predict that this variant does not affect a normal splicing, however no functional studies supporting this notion were published at the time of evaluation. The variant is absent from control population dataset of ExAC. The variant has not, to our knowledge, been reported in affected individuals or cited by a reputable database/clinical laboratory. Taking together, the variant was classified as VUS-Possibly Benign.

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