ClinVar Miner

Submissions for variant NM_020975.6(RET):c.3206G>C (p.Trp1069Ser) (rs776615468)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000204078 SCV000261126 uncertain significance Multiple endocrine neoplasia, type 2 2018-08-05 criteria provided, single submitter clinical testing This sequence change replaces tryptophan with serine at codon 1069 of the RET protein (p.Trp1069Ser). The tryptophan residue is highly conserved and there is a large physicochemical difference between tryptophan and serine. This variant is present in population databases (rs776615468, ExAC 0.003%). This variant has not been reported in the literature in individuals with RET-related disease. ClinVar contains an entry for this variant (Variation ID: 220521). 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 C25"). 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.
Counsyl RCV000411663 SCV000490049 uncertain significance Multiple endocrine neoplasia, type 2b 2016-10-13 criteria provided, single submitter clinical testing
Counsyl RCV000409674 SCV000490050 uncertain significance Multiple endocrine neoplasia, type 2a 2016-10-13 criteria provided, single submitter clinical testing

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