ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.3674A>G (p.Tyr1225Cys)

gnomAD frequency: 0.00007  dbSNP: rs146584765
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000229165 SCV000291665 likely benign DICER1-related tumor predisposition 2025-01-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000229165 SCV000389747 likely benign DICER1-related tumor predisposition 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Ambry Genetics RCV000570553 SCV000661834 uncertain significance Hereditary cancer-predisposing syndrome 2024-08-17 criteria provided, single submitter clinical testing The p.Y1225C variant (also known as c.3674A>G), located in coding exon 20 of the DICER1 gene, results from an A to G substitution at nucleotide position 3674. The tyrosine at codon 1225 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is not 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.
GeneDx RCV002285289 SCV002575819 uncertain significance not provided 2023-12-20 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV005008209 SCV005637560 uncertain significance Euthyroid goiter; Rhabdomyosarcoma, embryonal, 2; Pleuropulmonary blastoma; Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome 2024-03-18 criteria provided, single submitter clinical testing

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