ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.238G>C (p.Glu80Gln)

dbSNP: rs1595466234
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002029422 SCV002302264 uncertain significance DICER1-related tumor predisposition 2021-06-13 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with glutamine at codon 80 of the DICER1 protein (p.Glu80Gln). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and glutamine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with DICER1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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