ClinVar Miner

Submissions for variant NM_020975.6(RET):c.525_530dup (p.Arg177_Glu178insIleArg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003172671 SCV003869125 uncertain significance Hereditary cancer-predisposing syndrome 2023-01-26 criteria provided, single submitter clinical testing The c.525_530dupCATTCG variant (also known as p.I176_R177dup), located in coding exon 3 of the RET gene, results from an in-frame duplication of CATTCG at nucleotide positions 525 to 530. This results in the duplication of 2 extra residues (isoleucine and arginine) between codons 176 and 177. This amino acid region is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive (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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003779599 SCV004679879 uncertain significance Multiple endocrine neoplasia, type 2 2023-01-31 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with RET-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.525_530dup, results in the insertion of 2 amino acid(s) of the RET protein (p.Ile176_Arg177dup), but otherwise preserves the integrity of the reading frame.

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