ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.1818TGA[2] (p.Asp609del)

dbSNP: rs1555372586
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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 RCV000526246 SCV000658150 uncertain significance DICER1-related tumor predisposition 2024-10-21 criteria provided, single submitter clinical testing This variant, c.1824_1826del, results in the deletion of 1 amino acid(s) of the DICER1 protein (p.Asp609del), but otherwise preserves the integrity of the reading frame. 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: 477066). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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 RCV001013271 SCV001173838 uncertain significance Hereditary cancer-predisposing syndrome 2023-09-07 criteria provided, single submitter clinical testing The c.1824_1826delTGA variant (also known as p.D609del) is located in coding exon 10 of the DICER1 gene. This variant results from an in-frame TGA deletion at nucleotide positions 1824 to 1826. This results in the in-frame deletion of an aspartic acid at codon 609. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be neutral by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005010528 SCV005637581 uncertain significance Euthyroid goiter; Rhabdomyosarcoma, embryonal, 2; Pleuropulmonary blastoma; Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome 2024-01-15 criteria provided, single submitter clinical testing

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