ClinVar Miner

Submissions for variant NM_020975.6(RET):c.2116G>A (p.Val706Met) (rs137855422)

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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 RCV000565078 SCV000674858 uncertain significance Hereditary cancer-predisposing syndrome 2017-01-26 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
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
Invitae RCV000795272 SCV000934721 uncertain significance Multiple endocrine neoplasia, type 2 2018-12-20 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 706 of the RET protein (p.Val706Met). The valine residue is moderately conserved and there is a small physicochemical difference between valine and methionine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with RET-related disease. ClinVar contains an entry for this variant (Variation ID: 372079). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Mendelics RCV000410654 SCV000838395 uncertain significance Multiple endocrine neoplasia, type 2a 2018-07-02 criteria provided, single submitter clinical testing

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