ClinVar Miner

Submissions for variant NM_020975.6(RET):c.1618A>G (p.Arg540Gly) (rs543376293)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000263988 SCV000362312 uncertain significance Multiple endocrine neoplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000305137 SCV000362313 uncertain significance Renal hypodysplasia/aplasia 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000359923 SCV000362314 uncertain significance Hirschsprung Disease, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000260802 SCV000362315 uncertain significance Pheochromocytoma 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000573672 SCV000674811 uncertain significance Hereditary cancer-predisposing syndrome 2016-04-04 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (benign),Rarity in general population databases (dbsnp, esp, 1000 genomes)
Invitae RCV000697839 SCV000826471 uncertain significance Multiple endocrine neoplasia, type 2 2018-10-13 criteria provided, single submitter clinical testing This sequence change replaces arginine with glycine at codon 540 of the RET protein (p.Arg540Gly). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and glycine. This variant is present in population databases (rs543376293, ExAC 0.09%). This variant has not been reported in the literature in individuals with RET-related disease. ClinVar contains an entry for this variant (Variation ID: 299894). 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: "Benign"; Align-GVGD: "Class C0"). 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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