ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.4307C>A (p.Ala1436Asp)

dbSNP: rs777127946
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000476530 SCV000553603 uncertain significance DICER1-related tumor predisposition 2024-09-25 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 1436 of the DICER1 protein (p.Ala1436Asp). This variant is present in population databases (rs777127946, gnomAD 0.003%). 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: 412140). 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 tolerated. 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.
Ambry Genetics RCV000563455 SCV000669437 uncertain significance Hereditary cancer-predisposing syndrome 2023-11-15 criteria provided, single submitter clinical testing The p.A1436D variant (also known as c.4307C>A), located in coding exon 22 of the DICER1 gene, results from a C to A substitution at nucleotide position 4307. The alanine at codon 1436 is replaced by aspartic acid, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV004568103 SCV005059430 uncertain significance Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome 2024-03-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005010373 SCV005637739 uncertain significance Euthyroid goiter; Rhabdomyosarcoma, embryonal, 2; Pleuropulmonary blastoma; Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome 2024-03-01 criteria provided, single submitter clinical testing

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