ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.3722A>G (p.Lys1241Arg)

gnomAD frequency: 0.00001  dbSNP: rs764415288
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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 RCV000547038 SCV000658246 likely benign DICER1-related tumor predisposition 2025-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000567535 SCV000661962 uncertain significance Hereditary cancer-predisposing syndrome 2023-08-04 criteria provided, single submitter clinical testing The p.K1241R variant (also known as c.3722A>G), located in coding exon 20 of the DICER1 gene, results from an A to G substitution at nucleotide position 3722. The lysine at codon 1241 is replaced by arginine, 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.
Fulgent Genetics, Fulgent Genetics RCV000765195 SCV000896430 uncertain significance Euthyroid goiter; Rhabdomyosarcoma, embryonal, 2; DICER1-related tumor predisposition 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV003317278 SCV004021628 uncertain significance not provided 2023-07-07 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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

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