ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.3578A>G (p.Asn1193Ser)

gnomAD frequency: 0.00001  dbSNP: rs1288723916
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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 RCV000690265 SCV000817946 uncertain significance DICER1-related tumor predisposition 2024-07-11 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 1193 of the DICER1 protein (p.Asn1193Ser). This variant is present in population databases (no rsID available, gnomAD 0.003%). 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: 569594). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
Fulgent Genetics, Fulgent Genetics RCV000765196 SCV000896431 uncertain significance Euthyroid goiter; Rhabdomyosarcoma, embryonal, 2; DICER1-related tumor predisposition 2018-10-31 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002257932 SCV002532562 uncertain significance Hereditary cancer-predisposing syndrome 2021-10-27 criteria provided, single submitter curation
Ambry Genetics RCV002257932 SCV002613571 uncertain significance Hereditary cancer-predisposing syndrome 2023-06-14 criteria provided, single submitter clinical testing The p.N1193S variant (also known as c.3578A>G), located in coding exon 20 of the DICER1 gene, results from an A to G substitution at nucleotide position 3578. The asparagine at codon 1193 is replaced by serine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. 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.

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