ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.3456C>G (p.Asn1152Lys)

gnomAD frequency: 0.00001  dbSNP: rs1595366928
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000812130 SCV000952434 uncertain significance DICER1-related tumor predisposition 2024-09-27 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 1152 of the DICER1 protein (p.Asn1152Lys). 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: 655863). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) 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 RCV001020345 SCV001181810 uncertain significance Hereditary cancer-predisposing syndrome 2024-01-30 criteria provided, single submitter clinical testing The p.N1152K variant (also known as c.3456C>G), located in coding exon 20 of the DICER1 gene, results from a C to G substitution at nucleotide position 3456. The asparagine at codon 1152 is replaced by lysine, an amino acid with similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear.
Sema4, Sema4 RCV001020345 SCV002532550 uncertain significance Hereditary cancer-predisposing syndrome 2022-01-24 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV005012353 SCV005637567 uncertain significance Euthyroid goiter; Rhabdomyosarcoma, embryonal, 2; Pleuropulmonary blastoma; Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome 2024-03-24 criteria provided, single submitter clinical testing

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