ClinVar Miner

Submissions for variant NM_001111125.3(IQSEC2):c.3242C>T (p.Ala1081Val)

gnomAD frequency: 0.00006  dbSNP: rs782715847
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001768537 SCV001992315 uncertain significance not provided 2024-04-07 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 20473311)
Labcorp Genetics (formerly Invitae), Labcorp RCV003120665 SCV003789467 likely benign Intellectual disability, X-linked 1 2024-02-23 criteria provided, single submitter clinical testing

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