ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.5153A>G (p.Lys1718Arg)

dbSNP: rs1488309058
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001023628 SCV001185537 uncertain significance Hereditary cancer-predisposing syndrome 2022-04-28 criteria provided, single submitter clinical testing The p.K1718R variant (also known as c.5153A>G), located in coding exon 23 of the DICER1 gene, results from an A to G substitution at nucleotide position 5153. The lysine at codon 1718 is replaced by arginine, an amino acid with highly 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.
Invitae RCV001215641 SCV001387395 uncertain significance DICER1-related tumor predisposition 2020-12-17 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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 variant has not been reported in the literature in individuals with DICER1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with arginine at codon 1718 of the DICER1 protein (p.Lys1718Arg). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and arginine.

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