ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.3751A>G (p.Thr1251Ala)

dbSNP: rs1595365057
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001210905 SCV001382417 uncertain significance DICER1-related tumor predisposition 2019-08-15 criteria provided, single submitter clinical testing 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 threonine with alanine at codon 1251 of the DICER1 protein (p.Thr1251Ala). The threonine residue is moderately conserved and there is a small physicochemical difference between threonine and alanine. 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 tolerated, 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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