ClinVar Miner

Submissions for variant NM_020975.6(RET):c.1840GAG[2] (p.Glu616del)

dbSNP: rs377767399
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000570920 SCV000674839 benign Hereditary cancer-predisposing syndrome 2022-04-15 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV000021790 SCV000807014 benign not specified 2017-07-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001247073 SCV001420472 uncertain significance Multiple endocrine neoplasia, type 2 2025-01-07 criteria provided, single submitter clinical testing This variant, c.1846_1848del, results in the deletion of 1 amino acid(s) of the RET protein (p.Glu616del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs750189678, gnomAD 0.006%). This variant has been observed in individual(s) with clinical features of multiple endocrine neoplasia type 2 (PMID: 15858153). ClinVar contains an entry for this variant (Variation ID: 24900). 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.
GeneDx RCV004589520 SCV005079641 uncertain significance not provided 2023-10-23 criteria provided, single submitter clinical testing In-frame deletion of one amino acid in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; Observed in trans with a pathogenic RET variant in individuals with clinical features of multiple endocrine neoplasia type 2, as well as unaffected individuals within a single family (Ahmed et al., 2005); This variant is associated with the following publications: (PMID: 14633923, 36139606, 15858153)
Quest Diagnostics Nichols Institute San Juan Capistrano RCV004589520 SCV005623074 uncertain significance not provided 2024-07-30 criteria provided, single submitter clinical testing

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