ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.3474C>T (p.Ser1158=)

gnomAD frequency: 0.00001  dbSNP: rs368984998
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000566674 SCV000661879 likely benign Hereditary cancer-predisposing syndrome 2017-05-08 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 RCV000654458 SCV000776352 likely benign DICER1-related tumor predisposition 2025-01-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003900246 SCV004716120 likely benign DICER1-related disorder 2023-09-21 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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