ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.3692_3693delinsGT (p.Pro1231Arg)

dbSNP: rs1891118949
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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 RCV001294667 SCV001483554 uncertain significance DICER1-related tumor predisposition 2021-09-17 criteria provided, single submitter clinical testing The frequency data for this variant in the population databases is not available, as this variant may be reported as separate entries in the ExAC database. This variant has not been reported in the literature in individuals affected with DICER1-related conditions. ClinVar contains an entry for this variant (Variation ID: 998767). 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: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available"). 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. This sequence change replaces proline with arginine at codon 1231 of the DICER1 protein (p.Pro1231Arg). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and arginine.

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