ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.5300A>G (p.His1767Arg)

gnomAD frequency: 0.00001  dbSNP: rs1296798488
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002007812 SCV002265697 uncertain significance DICER1-related tumor predisposition 2024-06-11 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 1767 of the DICER1 protein (p.His1767Arg). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with DICER1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1475164). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt DICER1 protein function with a negative predictive value of 80%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Baylor Genetics RCV004571871 SCV005059563 uncertain significance Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome 2023-11-02 criteria provided, single submitter clinical testing

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