ClinVar Miner

Submissions for variant NM_020975.6(RET):c.-3G>A

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002321170 SCV002626214 uncertain significance Hereditary cancer-predisposing syndrome 2023-12-06 criteria provided, single submitter clinical testing The c.-3G>A variant is located in the 5' untranslated region (5’ UTR) of the RET gene. This variant results from a G to A substitution 3 nucleotides upstream from the first translated codon. This nucleotide position is well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
All of Us Research Program, National Institutes of Health RCV004005650 SCV004815267 uncertain significance Multiple endocrine neoplasia, type 2 2024-06-11 criteria provided, single submitter clinical testing This variant causes a G to A nucleotide substitution at the -3 position in the 5' untranslated region in the RET protein. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with RET-related disorders in the literature. This variant has been identified in 1/31052 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV004999697 SCV005623115 uncertain significance not provided 2024-08-23 criteria provided, single submitter clinical testing The RET c.-3G>A variant has not been reported in individuals with RET-related conditions in the published literature. The frequency of this variant in the general population, 0.000032 (1/31052 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. Based on the available information, we are unable to determine the clinical significance of this variant.

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