ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.1916C>G (p.Ala639Gly)

dbSNP: rs1892140133
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001231312 SCV001403829 uncertain significance DICER1-related tumor predisposition 2020-11-17 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: "Deleterious"; PolyPhen-2: "Probably 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 alanine with glycine at codon 639 of the DICER1 protein (p.Ala639Gly). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and glycine.
Ambry Genetics RCV002411852 SCV002720606 uncertain significance Hereditary cancer-predisposing syndrome 2022-02-17 criteria provided, single submitter clinical testing The p.A639G variant (also known as c.1916C>G), located in coding exon 11 of the DICER1 gene, results from a C to G substitution at nucleotide position 1916. The alanine at codon 639 is replaced by glycine, an amino acid with similar properties. This amino acid position is conserved. 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.

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