ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.3221C>T (p.Thr1074Ile)

dbSNP: rs1060503653
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000472928 SCV000553634 uncertain significance DICER1-related tumor predisposition 2022-03-05 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with DICER1-related conditions. 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 412171). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 1074 of the DICER1 protein (p.Thr1074Ile).
Ambry Genetics RCV002446843 SCV002612252 uncertain significance Hereditary cancer-predisposing syndrome 2025-03-12 criteria provided, single submitter clinical testing The p.T1074I variant (also known as c.3221C>T), located in coding exon 19 of the DICER1 gene, results from a C to T substitution at nucleotide position 3221. The threonine at codon 1074 is replaced by isoleucine, an amino acid with 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.
Fulgent Genetics, Fulgent Genetics RCV005010376 SCV005637570 uncertain significance Euthyroid goiter; Rhabdomyosarcoma, embryonal, 2; Pleuropulmonary blastoma; Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome 2024-03-17 criteria provided, single submitter clinical testing

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