ClinVar Miner

Submissions for variant NM_001379659.1(ZNF142):c.25C>T (p.Gln9Ter)

gnomAD frequency: 0.00045  dbSNP: rs200699349
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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 RCV001331634 SCV001523717 uncertain significance Neurodevelopmental disorder with impaired speech and hyperkinetic movements 2020-05-06 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV003284209 SCV003961844 uncertain significance Inborn genetic diseases 2023-04-21 criteria provided, single submitter clinical testing May escape nonsense-mediated mRNA decay and/or be rescued by re-initiation Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
OMIM RCV001331634 SCV004030238 pathogenic Neurodevelopmental disorder with impaired speech and hyperkinetic movements 2023-08-25 no assertion criteria provided literature only

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