ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.243A>G (p.Glu81=) (rs1057521802)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000565638 SCV000664909 likely benign Hereditary cancer-predisposing syndrome 2016-11-02 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
GeneDx RCV000432971 SCV000524594 likely benign not specified 2016-02-18 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 RCV000589467 SCV000697348 uncertain significance not provided 2016-01-04 criteria provided, single submitter clinical testing Variant summary: c.243A>G affects a conserved nucleotide, resulting in no amino acid change. One in-silico tool predicts damaging outcome for this variant. 5/5 programs in Alamut predict that this variant does not affect normal splicing. ESE finder predicts that this variant may affect ESE site of SF2/ASF (IgM-BRCA1). However, these predictions are not confirmed by experimental studies. This variant is not found in 120586 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant was classified as VUS-possibly benign.
Invitae RCV000549624 SCV000625618 likely benign Hereditary nonpolyposis colon cancer 2017-06-22 criteria provided, single submitter clinical testing

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