ClinVar Miner

Submissions for variant NM_177438.2(DICER1):c.3827A>G (p.Asp1276Gly) (rs758636143)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000472875 SCV000553574 uncertain significance DICER1-related pleuropulmonary blastoma cancer predisposition syndrome 2018-12-05 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glycine at codon 1276 of the DICER1 protein (p.Asp1276Gly). The aspartic acid residue is weakly conserved and there is a moderate physicochemical difference between aspartic acid and glycine. This variant is present in population databases (rs758636143, ExAC 0.001%). This variant has not been reported in the literature in individuals with DICER1-related disease. ClinVar contains an entry for this variant (Variation ID: 412115). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glycine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. 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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