ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.348A>C (p.Ala116=) (rs763057312)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163915 SCV000214510 likely benign Hereditary cancer-predisposing syndrome 2015-08-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Color RCV000163915 SCV000686193 likely benign Hereditary cancer-predisposing syndrome 2015-11-19 criteria provided, single submitter clinical testing
GeneDx RCV000426178 SCV000519143 likely benign not specified 2016-07-29 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 RCV000590675 SCV000697360 uncertain significance not provided 2016-05-27 criteria provided, single submitter clinical testing Variant summary: The PMS2 c.348A>C (p.Ala116Ala) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant while 5/5 splice predicting tools predict the variant not to have an impact on normal splicing. This variant was found in 3/113292 control chromosomes at a frequency of 0.0000265, which does not exceed the estimated maximal expected allele frequency of a pathogenic PMS2 variant (0.0001136). One clinical diagnostic laboratory classified this variant as Likely benign without providing evidence to independently evaluate. 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 RCV000464978 SCV000562208 likely benign Hereditary nonpolyposis colon cancer 2017-07-06 criteria provided, single submitter clinical testing

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