ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.1955A>C (p.Lys652Thr)

gnomAD frequency: 0.00001  dbSNP: rs755150419
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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 RCV000546568 SCV000658160 likely benign DICER1-related tumor predisposition 2025-01-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV001013829 SCV001174464 uncertain significance Hereditary cancer-predisposing syndrome 2025-02-18 criteria provided, single submitter clinical testing The p.K652T variant (also known as c.1955A>C), located in coding exon 11 of the DICER1 gene, results from an A to C substitution at nucleotide position 1955. The lysine at codon 652 is replaced by threonine, 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.
Baylor Genetics RCV003470772 SCV004193311 uncertain significance Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome 2023-11-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003409829 SCV004113391 uncertain significance DICER1-related disorder 2024-05-22 no assertion criteria provided clinical testing The DICER1 c.1955A>C variant is predicted to result in the amino acid substitution p.Lys652Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.029% of alleles in individuals of Latino descent in gnomAD. In ClinVar this variant has been interpreted ranging from likely benign to uncertain (https://ncbi.nlm.nih.gov/clinvar/variation/477076/). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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