ClinVar Miner

Submissions for variant NM_020975.6(RET):c.3295T>C (p.Trp1099Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002326179 SCV002611181 uncertain significance Hereditary cancer-predisposing syndrome 2020-09-10 criteria provided, single submitter clinical testing The p.W1099R variant (also known as c.3295T>C), located in coding exon 20 of the RET gene, results from a T to C substitution at nucleotide position 3295. The tryptophan at codon 1099 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
All of Us Research Program, National Institutes of Health RCV004808256 SCV005430416 uncertain significance Multiple endocrine neoplasia, type 2 2024-06-11 criteria provided, single submitter clinical testing

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