ClinVar Miner

Submissions for variant NM_020975.6(RET):c.565C>T (p.Arg189Cys)

dbSNP: rs1210452561
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001349277 SCV001543612 uncertain significance Multiple endocrine neoplasia, type 2 2022-11-08 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 189 of the RET protein (p.Arg189Cys). This variant has not been reported in the literature in individuals affected with RET-related conditions. 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1044947).
Ambry Genetics RCV002350650 SCV002651871 uncertain significance Hereditary cancer-predisposing syndrome 2022-01-07 criteria provided, single submitter clinical testing The p.R189C variant (also known as c.565C>T), located in coding exon 3 of the RET gene, results from a C to T substitution at nucleotide position 565. The arginine at codon 189 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002493796 SCV002799762 uncertain significance Hirschsprung disease, susceptibility to, 1; Multiple endocrine neoplasia type 2B; Pheochromocytoma; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A 2022-04-22 criteria provided, single submitter clinical testing

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