ClinVar Miner

Submissions for variant NM_003587.5(DHX16):c.2021C>T (p.Thr674Met)

dbSNP: rs1582931908
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003322832 SCV004028441 pathogenic not provided 2023-08-16 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 36212160, 31256877, 36211162)
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000853105 SCV000995960 likely pathogenic Seizure; Intellectual disability; Neurodevelopmental delay 2019-05-30 no assertion criteria provided research
OMIM RCV000991228 SCV001142624 pathogenic Neuromuscular disease and ocular or auditory anomalies with or without seizures 2020-07-14 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV001261677 SCV001438982 likely pathogenic Neurodevelopmental disorders no assertion criteria provided research

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