ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.2047C>T (p.Pro683Ser)

gnomAD frequency: 0.00001  dbSNP: rs1892040471
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001040870 SCV001204461 uncertain significance DICER1-related tumor predisposition 2023-08-17 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 683 of the DICER1 protein (p.Pro683Ser). 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: 839174). 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. 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 RCV003467725 SCV004193333 uncertain significance Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome 2023-10-13 criteria provided, single submitter clinical testing

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