ClinVar Miner

Submissions for variant NM_016953.4(PDE11A):c.985C>T (p.Arg329Ter)

gnomAD frequency: 0.00042  dbSNP: rs188985665
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000490398 SCV001526653 uncertain significance Pigmented nodular adrenocortical disease, primary, 2 2018-06-28 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV002282045 SCV002571655 uncertain significance not provided 2022-09-12 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene or region of a gene for which loss of function is not a well-established mechanism of disease; Has not been previously published in an individual with PDE11A-related disease as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 34426522, 31589614, 31921681, 30262796)
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center RCV000490398 SCV000267442 likely pathogenic Pigmented nodular adrenocortical disease, primary, 2 2016-03-18 flagged submission reference population

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