ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.163+1G>A (rs1064795705)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481277 SCV000571765 likely pathogenic not provided 2018-10-23 criteria provided, single submitter clinical testing This variant is denoted PMS2 c.163+1G>A or IVS2+1G>A and consists of a G>A nucleotide substitution at the +1 position of intron 2 of the PMS2 gene. This variant destroys a canonical splice donor site and is predicted to cause abnormal gene splicing, leading to either an abnormal message that is subject to nonsense-mediated mRNA decay or to an abnormal protein product. This variant has not, to our knowledge, been published in the literature. Based on currently available evidence, we consider PMS2 c.163+1G>A to be a likely pathogenic variant.
Ambry Genetics RCV000569035 SCV000670798 likely pathogenic Hereditary cancer-predisposing syndrome 2019-04-08 criteria provided, single submitter clinical testing Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity;Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000481277 SCV000888397 likely pathogenic not provided 2019-08-21 criteria provided, single submitter clinical testing The variant disrupts a canonical splice site, and is therefore predicted to result in the loss of a functional protein. Not found in the total gnomAD dataset, and the data is high quality (0/276850 chr).
Color RCV000569035 SCV001350139 likely pathogenic Hereditary cancer-predisposing syndrome 2019-10-14 criteria provided, single submitter clinical testing

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