ClinVar Miner

Submissions for variant NM_016222.4(DDX41):c.1354C>T (p.Leu452=)

gnomAD frequency: 0.00106  dbSNP: rs143421709
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001536201 SCV001752924 likely benign not provided 2021-10-24 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821857 SCV002069739 benign not specified 2021-02-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001536201 SCV003283446 benign not provided 2025-01-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV004980588 SCV005563823 likely benign Inborn genetic diseases 2024-08-21 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.
PreventionGenetics, part of Exact Sciences RCV003908888 SCV004725889 likely benign DDX41-related disorder 2020-01-02 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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