ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.4432G>A (p.Ala1478Thr)

dbSNP: rs372496188
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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 RCV001041252 SCV001204855 uncertain significance DICER1-related tumor predisposition 2023-07-10 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with DICER1-related conditions. 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. 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. ClinVar contains an entry for this variant (Variation ID: 839483). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1478 of the DICER1 protein (p.Ala1478Thr).
Ambry Genetics RCV002327276 SCV002628303 uncertain significance Hereditary cancer-predisposing syndrome 2021-08-31 criteria provided, single submitter clinical testing The p.A1478T variant (also known as c.4432G>A), located in coding exon 22 of the DICER1 gene, results from a G to A substitution at nucleotide position 4432. The alanine at codon 1478 is replaced by threonine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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