ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.4315G>C (p.Glu1439Gln)

dbSNP: rs1595342125
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000822392 SCV000963192 uncertain significance DICER1-related tumor predisposition 2022-03-28 criteria provided, single submitter clinical testing 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. This variant is not present in population databases (gnomAD no frequency). 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: 664314). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 1439 of the DICER1 protein (p.Glu1439Gln).
Ambry Genetics RCV004609550 SCV005110946 uncertain significance Hereditary cancer-predisposing syndrome 2024-05-04 criteria provided, single submitter clinical testing The p.E1439Q variant (also known as c.4315G>C), located in coding exon 22 of the DICER1 gene, results from a G to C substitution at nucleotide position 4315. The glutamic acid at codon 1439 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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