ClinVar Miner

Submissions for variant NM_020975.6(RET):c.1567A>C (p.Lys523Gln) (rs766278774)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000533025 SCV000658408 uncertain significance Multiple endocrine neoplasia, type 2 2017-03-06 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamine at codon 523 of the RET protein (p.Lys523Gln). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and glutamine. The frequency data for this variant (rs766278774) in the population databases is unreliable, as metrics indicate poor quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with a RET-related disease. 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: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Mendelics RCV000709115 SCV000838386 uncertain significance Multiple endocrine neoplasia, type 2a 2018-07-02 criteria provided, single submitter clinical testing

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