ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.5761A>G (p.Asn1921Asp)

dbSNP: rs775077210
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000690808 SCV000818536 uncertain significance DICER1-related tumor predisposition 2018-02-15 criteria provided, single submitter clinical testing This sequence change replaces asparagine with aspartic acid at codon 1921 of the DICER1 protein (p.Asn1921Asp). The asparagine residue is moderately conserved and there is a small physicochemical difference between asparagine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with DICER1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
PreventionGenetics, part of Exact Sciences RCV004723077 SCV005338465 uncertain significance DICER1-related disorder 2024-07-18 no assertion criteria provided clinical testing The DICER1 c.5761A>G variant is predicted to result in the amino acid substitution p.Asn1921Asp. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. This variant has an interpretation of uncertain significance in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/570042/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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