ClinVar Miner

Submissions for variant NM_020975.6(RET):c.129C>A (p.Asp43Glu)

gnomAD frequency: 0.00001  dbSNP: rs1488040686
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001010592 SCV001170816 uncertain significance Hereditary cancer-predisposing syndrome 2024-11-11 criteria provided, single submitter clinical testing The p.D43E variant (also known as c.129C>A), located in coding exon 2 of the RET gene, results from a C to A substitution at nucleotide position 129. The aspartic acid at codon 43 is replaced by glutamic acid, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003532346 SCV004265908 uncertain significance Multiple endocrine neoplasia, type 2 2024-07-11 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 43 of the RET protein (p.Asp43Glu). This variant is present in population databases (no rsID available, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with RET-related conditions. ClinVar contains an entry for this variant (Variation ID: 818716). 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. 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.
All of Us Research Program, National Institutes of Health RCV003532346 SCV004828131 uncertain significance Multiple endocrine neoplasia, type 2 2023-05-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005036279 SCV005667264 uncertain significance Hirschsprung disease, susceptibility to, 1; Multiple endocrine neoplasia type 2B; Pheochromocytoma; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A 2024-04-24 criteria provided, single submitter clinical testing

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