ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.792T>A (p.His264Gln)

dbSNP: rs1554301398
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000590558 SCV000697386 uncertain significance not provided 2017-08-09 criteria provided, single submitter clinical testing Variant summary: The PMS2 c.792T>A (p.His264Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide located in the Ribosomal protein S5 domain 2-type fold (IPR020568) (InterPro). 4/4 in silico tools predict a benign outcome for this variant (SNPsandGO not captured due to low reliability index). This variant was not found in 106942 control chromosomes within the ExAC control dataset. 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. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS).
GeneDx RCV000590558 SCV002005607 uncertain significance not provided 2019-08-19 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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