ClinVar Miner

Submissions for variant NM_020975.6(RET):c.2833G>A (p.Val945Met) (rs587780811)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000662596 SCV000785226 uncertain significance Multiple endocrine neoplasia, type 2a 2017-06-19 criteria provided, single submitter clinical testing
Invitae RCV000123315 SCV000166622 uncertain significance Multiple endocrine neoplasia, type 2 2018-07-16 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 945 of the RET protein (p.Val945Met). The valine residue is highly conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs587780811, ExAC 0.006%). This variant has not been reported in the literature in individuals with RET-related disease. ClinVar contains an entry for this variant (Variation ID: 136113). 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: "Deleterious"; 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.

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