ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.3221C>G (p.Thr1074Ser)

dbSNP: rs1060503653
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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 RCV001338729 SCV001532415 uncertain significance DICER1-related tumor predisposition 2020-10-05 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 serine at codon 1074 of the DICER1 protein (p.Thr1074Ser). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and serine. 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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