ClinVar Miner

Submissions for variant NM_020975.6(RET):c.2200G>A (p.Glu734Lys)

dbSNP: rs1838077120
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001219611 SCV001391559 uncertain significance Multiple endocrine neoplasia, type 2 2019-04-17 criteria provided, single submitter clinical testing 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. This variant has been reported to affect RET protein function (PMID: 22837065). This variant has been observed in an individual with total colonic agaglionosis (PMID: 10946353). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamic acid with lysine at codon 734 of the RET protein (p.Glu734Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine.

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