ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.1249G>A (p.Asp417Asn)

dbSNP: rs150714784
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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 RCV000704821 SCV000833790 uncertain significance DICER1-related tumor predisposition 2018-01-22 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 missense changes on protein structure and function 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 disease. This variant is present in population databases (rs150714784, ExAC 0.01%). This sequence change replaces aspartic acid with asparagine at codon 417 of the DICER1 protein (p.Asp417Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine.

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