ClinVar Miner

Submissions for variant NM_020975.6(RET):c.1895A>G (p.Glu632Gly)

dbSNP: rs1335705237
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002287019 SCV002577025 uncertain significance not provided 2022-03-24 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Observed in an individual with isolated pheochromocytoma (Scollo et al., 2016); This variant is associated with the following publications: (PMID: 14633923, 26497911)
Labcorp Genetics (formerly Invitae), Labcorp RCV005058235 SCV005718450 uncertain significance Multiple endocrine neoplasia, type 2 2024-11-09 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 632 of the RET protein (p.Glu632Gly). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with pheochromocytoma (PMID: 26497911). ClinVar contains an entry for this variant (Variation ID: 1707858). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.

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