ClinVar Miner

Submissions for variant NM_001081550.2(THOC2):c.2642A>G (p.Tyr881Cys)

dbSNP: rs1603246794
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004726764 SCV005334408 likely pathogenic not provided 2023-08-27 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: Muthusamy2022[casereport], 34976470, 32116545)
Sydney Children's Hospital, SCHN RCV000991320 SCV001132792 uncertain significance X-linked intellectual disability-short stature-overweight syndrome 2019-01-10 no assertion criteria provided clinical testing

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