ClinVar Miner

Submissions for variant NM_020975.6(RET):c.1223A>T (p.Tyr408Phe)

dbSNP: rs864622405
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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 RCV000204565 SCV000260496 uncertain significance Multiple endocrine neoplasia, type 2 2015-09-05 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with phenylalanine at codon 408 of the RET protein (p.Tyr408Phe). The tyrosine residue is highly conserved and there is a small physicochemical difference between tyrosine and phenylalanine. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases and has not been reported in the literature. In summary, this is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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