ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.5027G>A (p.Arg1676Lys)

dbSNP: rs375465466
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001052523 SCV001216735 uncertain significance DICER1-related tumor predisposition 2023-11-25 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with lysine, which is basic and polar, at codon 1676 of the DICER1 protein (p.Arg1676Lys). This variant is present in population databases (no rsID available, gnomAD 0.006%). 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: 848706). 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.
Ambry Genetics RCV003160410 SCV003856028 uncertain significance Hereditary cancer-predisposing syndrome 2022-11-30 criteria provided, single submitter clinical testing The p.R1676K variant (also known as c.5027G>A), located in coding exon 22 of the DICER1 gene, results from a G to A substitution at nucleotide position 5027. The arginine at codon 1676 is replaced by lysine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV003473650 SCV004193393 uncertain significance Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome 2023-08-25 criteria provided, single submitter clinical testing

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