ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.2038G>A (p.Val680Ile)

gnomAD frequency: 0.00001  dbSNP: rs201883449
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000476569 SCV000553520 likely benign DICER1-related tumor predisposition 2025-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000571758 SCV000661914 likely benign Hereditary cancer-predisposing syndrome 2022-08-22 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.
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University RCV003153645 SCV003843313 benign Ovarian cancer 2022-01-01 criteria provided, single submitter clinical testing

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