ClinVar Miner

Submissions for variant NM_001039591.3(USP9X):c.3140T>C (p.Met1047Thr)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002291847 SCV002583928 uncertain significance not provided 2022-04-11 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
Ambry Genetics RCV003101676 SCV003611978 likely benign Inborn genetic diseases 2022-02-10 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV002291847 SCV004619260 likely benign not provided 2024-01-03 criteria provided, single submitter clinical testing

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