ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.359A>T (p.Lys120Met)

gnomAD frequency: 0.00003  dbSNP: rs1060503608
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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 RCV000474331 SCV000553537 uncertain significance DICER1-related tumor predisposition 2024-07-15 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with methionine, which is neutral and non-polar, at codon 120 of the DICER1 protein (p.Lys120Met). This variant is present in population databases (no rsID available, gnomAD 0.01%). 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: 412081). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt DICER1 protein function with a positive 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 RCV000566901 SCV000669332 uncertain significance Hereditary cancer-predisposing syndrome 2024-03-25 criteria provided, single submitter clinical testing The p.K120M variant (also known as c.359A>T), located in coding exon 3 of the DICER1 gene, results from an A to T substitution at nucleotide position 359. The lysine at codon 120 is replaced by methionine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV000765199 SCV000896434 uncertain significance Euthyroid goiter; Rhabdomyosarcoma, embryonal, 2; DICER1-related tumor predisposition 2018-10-31 criteria provided, single submitter clinical testing

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