ClinVar Miner

Submissions for variant NM_020975.6(RET):c.2116G>A (p.Val706Met)

gnomAD frequency: 0.00006  dbSNP: rs137855422
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409130 SCV000489775 uncertain significance Multiple endocrine neoplasia, type 2b 2015-12-28 criteria provided, single submitter clinical testing
Counsyl RCV000410654 SCV000489776 uncertain significance Multiple endocrine neoplasia, type 2a 2015-12-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000565078 SCV000674858 benign Hereditary cancer-predisposing syndrome 2023-03-12 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: 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.
Mendelics RCV000410654 SCV000838395 uncertain significance Multiple endocrine neoplasia, type 2a 2018-07-02 criteria provided, single submitter clinical testing
Invitae RCV000795272 SCV000934721 uncertain significance Multiple endocrine neoplasia, type 2 2023-12-27 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 706 of the RET protein (p.Val706Met). This variant is present in population databases (rs137855422, gnomAD 0.02%). This missense change has been observed in individual(s) with endometrial cancer and/or breast cancer (PMID: 29625052, 35264596, 36451132). ClinVar contains an entry for this variant (Variation ID: 372079). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
Myriad Genetics, Inc. RCV000410654 SCV004018052 uncertain significance Multiple endocrine neoplasia, type 2a 2023-04-17 criteria provided, single submitter clinical testing This variant is classified as a variant of uncertain significance as there is insufficient evidence to determine its impact on protein function and/or cancer risk.

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