ClinVar Miner

Submissions for variant NM_016953.4(PDE11A):c.2653G>A (p.Val885Met)

gnomAD frequency: 0.00086  dbSNP: rs138134819
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001763597 SCV001997872 uncertain significance not provided 2019-10-28 criteria provided, single submitter clinical testing 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
PreventionGenetics, part of Exact Sciences RCV003956356 SCV004768395 likely benign PDE11A-related disorder 2020-01-24 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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