ClinVar Miner

Submissions for variant NM_020975.6(RET):c.1724C>T (p.Thr575Ile) (rs587780808)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000662668 SCV000785368 uncertain significance Multiple endocrine neoplasia, type 2a 2017-07-14 criteria provided, single submitter clinical testing
Invitae RCV000123302 SCV000166609 uncertain significance Multiple endocrine neoplasia, type 2 2018-09-26 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 575 of the RET protein (p.Thr575Ile). The threonine residue is weakly conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a RET-related disease. ClinVar contains an entry for this variant (Variation ID: 136104). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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