ClinVar Miner

Submissions for variant NM_020975.6(RET):c.20G>T (p.Gly7Val)

dbSNP: rs1366681125
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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 RCV001916021 SCV002178501 uncertain significance Multiple endocrine neoplasia, type 2 2021-01-20 criteria provided, single submitter clinical testing This sequence change replaces glycine with valine at codon 7 of the RET protein (p.Gly7Val). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and valine. 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with RET-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database.

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