ClinVar Miner

Submissions for variant NM_020975.6(RET):c.1840GAG[4] (p.Glu616_Lys617insGlu)

dbSNP: rs377767399
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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 RCV001985125 SCV002220486 uncertain significance Multiple endocrine neoplasia, type 2 2023-06-06 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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: 1445581). 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. This variant, c.1846_1848dup, results in the insertion of 1 amino acid(s) of the RET protein (p.Glu616dup), but otherwise preserves the integrity of the reading frame.
Ambry Genetics RCV002407152 SCV002715830 uncertain significance Hereditary cancer-predisposing syndrome 2021-06-02 criteria provided, single submitter clinical testing The c.1846_1848dupGAG variant (also known as p.E616dup), located in coding exon 10 of the RET gene, results from an in-frame duplication of GAG at nucleotide positions 1846 to 1848. This results in the duplication of an extra residue between codons 616 and 617. This region is well conserved in available vertebrate species. In addition, this alteration is predicted to be neutral by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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