ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.1510G>T (p.Val504Leu)

dbSNP: rs748384175
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003466166 SCV004193359 uncertain significance Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome 2023-09-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003588922 SCV004330326 uncertain significance DICER1-related tumor predisposition 2023-10-05 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 504 of the DICER1 protein (p.Val504Leu). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with DICER1-related conditions. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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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