ClinVar Miner

Submissions for variant NM_020975.6(RET):c.2255A>G (p.Tyr752Cys)

dbSNP: rs909451217
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001896932 SCV002176986 uncertain significance Multiple endocrine neoplasia, type 2 2023-04-22 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 752 of the RET protein (p.Tyr752Cys). 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. 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 1402378). This variant has not been reported in the literature in individuals affected with RET-related conditions. This variant is not present in population databases (gnomAD no frequency).
Ambry Genetics RCV004945780 SCV005490994 uncertain significance Hereditary cancer-predisposing syndrome 2024-11-22 criteria provided, single submitter clinical testing The p.Y752C variant (also known as c.2255A>G), located in coding exon 12 of the RET gene, results from an A to G substitution at nucleotide position 2255. The tyrosine at codon 752 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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