ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.860C>G (p.Ser287Cys)

dbSNP: rs1060503600
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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 RCV000469952 SCV000553525 uncertain significance DICER1-related tumor predisposition 2020-11-05 criteria provided, single submitter clinical testing In summary, this variant is a novel missense change with uncertain impact on protein function. 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: "Benign"; Align-GVGD: "Class C15"). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a DICER1-related disease. This sequence change replaces serine with cysteine at codon 287 of the DICER1 protein (p.Ser287Cys). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and cysteine.

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