ClinVar Miner

Submissions for variant NM_020975.6(RET):c.2098_2115dup (p.Ser705_Val706insMetGluAsnGlnValSer)

dbSNP: rs1345270276
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000557794 SCV000658436 uncertain significance Multiple endocrine neoplasia, type 2 2025-01-23 criteria provided, single submitter clinical testing This variant, c.2098_2115dup, results in the insertion of 6 amino acid(s) of the RET protein (p.Met700_Ser705dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with RET-related conditions. ClinVar contains an entry for this variant (Variation ID: 477339). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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 RCV001014424 SCV001175126 uncertain significance Hereditary cancer-predisposing syndrome 2024-06-26 criteria provided, single submitter clinical testing The c.2098_2115dup18 variant (also known as p.M700_S705dup), located in coding exon 11 of the RET gene, results from an in-frame duplication of 18 nucleotides at positions 2098 to 2115. This results in the duplication of 6 extra residues (MENQVS) at codons 700 to 705. In addition, the in silico prediction for this alteration is inconclusive (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). This amino acid region is well conserved in available vertebrate species. Based on the available evidence, the clinical significance of this variant remains unclear.
All of Us Research Program, National Institutes of Health RCV000557794 SCV004830514 uncertain significance Multiple endocrine neoplasia, type 2 2023-04-03 criteria provided, single submitter clinical testing This variant results in the in-frame duplication of six amino acids (methionine 700 to serine 705) 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 1/249846 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.

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